Varaico: Literature-Extracted Genetic Variants

FGFR2

2,640 papers

RefSeq Summary

The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family member...

Pfam Domains

Ig_3aa 38–110UCSCImmunoglobulin domain

I-setaa 72–159UCSCImmunoglobulin I-set domain

Ig_3aa 167–257UCSCImmunoglobulin domain

PK_Tyr_Ser-Thraa 392–668UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 2

HGNC Previous Symbols

KGFR; BEK; CFD1; JWS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000141.5

p.V280D

c.839T>A

Surrounding Variants

2 papers

NM_000141.5

p.K279N

c.837G>T

2 papers

NM_000141.5

p.K279N

c.837G>C

19 papers

NM_000141.5

p.Y281C

c.842A>G

1 paper

NM_000141.5

p.F276_V280del5

c.826_839del15

1 paper

NM_000141.5

p.Y281*

c.843C>G

1 paper

NM_000141.5

p.Y281fs

c.841_842fs

1 paper

NM_000141.5

p.C278W

c.834C>G

1 paper

NM_000141.5

p.C278delins

c.833_834delinsTT

6 papers

NM_000141.5

p.S282C

c.844A>T

1 paper

NM_000141.5

p.S282insFs

c.844_845insT

1 paper

NM_000141.5

p.Y281insFs

c.843dupC

104 papers

NM_000141.5

p.C278F

c.833G>T