(Q20782771)

English

NF1

protein-coding gene in the species Homo sapiens

NFNS
VRNF
WSS
neurofibromin 1

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000196712

PBB Protein NF1 image.jpg
500 × 500; 41 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

Neurofibromin 1

1 reference

6 July 2017

UniProt protein ID

1 reference

UniProt protein ID

19 March 2016

language of work or name

genetic association

juvenile myelomonocytic leukemia

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000196712/EFO_1000309

based on heuristic

inferred from an Open Targets association score over 0.7

Watson syndrome

1 reference

UniProt protein ID

13 August 2019

colorectal cancer

1 reference

UniProt protein ID

13 August 2019

hereditary pheochromocytoma-paraganglioma

1 reference

6 November 2019

https://search.clinicalgenome.org/kb/gene-validity/8354

neurofibromatosis type I

0 references

neurofibromatoses

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000196712/EFO_0008514

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 17

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

31094927

human chromosome 17

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

29421945

human chromosome 17

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

31382116

human chromosome 17

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

29709134

human chromosome 17

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

cytogenetic location

17q11.2

1 reference

15 May 2022

141252

1 reference

15 May 2022

2 references

HomoloGene build68

28 November 2015

Orthologous MAtrix

https://omabrowser.org/oma/vps/P21359/

1 reference

Orthologous MAtrix

https://omabrowser.org/oma/vps/P21359/

1 reference

Orthologous MAtrix

https://omabrowser.org/oma/vps/P21359/

Achilles tendon

1

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196712

secondary oocyte

2

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196712

3

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196712

ganglionic eminence

4

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196712

corpus callosum

5

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196712

corpus epididymis

6

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196712

Region I of hippocampus proper

7

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196712

stromal cell of endometrium

8

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196712

postcentral gyrus

9

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196712

10

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000196712

http://identifiers.org/ncbigene/4763

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

0 references

Ensembl gene ID

ENSG00000196712

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

Ensembl transcript ID

ENST00000584328

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000356175

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000358273

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000422121

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000431387

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000456735

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000466819

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000468273

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000471572

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000479536

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000479614

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000487476

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000488981

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000489712

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000490416

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000493220

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000495910

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000498569

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000577967

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000579081

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000581113

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000581790

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000582892

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000684826

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000688507

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000693210

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000687863

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000691014

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000687027

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000686189

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000684998

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000692326

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000691649

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000689464

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000693617

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000696138

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000696141

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000696140

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

ENST00000696139

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000196712

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

Sitelinks

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Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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