(Q28423283)

English

FGFR2 N550K

genetic variant

N550K
N549K
ASN550LYS
RS121913476

In more languages

default for all languages

No label defined

No description defined

Statements

missense mutation

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/545

Gain Of Function Variant

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/545

human chromosome 10

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/545

123258034

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/545

123258034

genomic assembly

Genome assembly GRCh37

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/545

biological variant of

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/545

positive therapeutic predictor for

medical condition treated

endometrial cancer

determination method

CIViC evidence level D

CIViC 3-star trust rating

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/evidence/1322

Inhibition of activated fibroblast growth factor receptor 2 in endometrial cancer cells induces cell death despite PTEN abrogation

Identifiers

CIViC variant ID

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/545

dbSNP Reference SNP number

1 reference

HGVS nomenclature

NC_000010.10:g.123258034A>T

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/545

NM_022970.3:c.1650T>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/545

NP_075259.4:p.Asn550Lys

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/545

ENST00000457416.2:c.1650T>A

1 reference

28 March 2022

https://civic.genome.wustl.edu/links/variants/545

Sitelinks

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Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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