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.I348V

c.1042A>G

Surrounding Variants

1 paper

NM_000141.5

p.V332_S347del0

c.994_1041del48

1 paper

NM_000141.5

p.S347F

c.1040C>T

42 papers

NM_000141.5

p.S347C

c.1040C>G

1 paper

NM_000141.5

p.S347Y

c.1040C>A

1 paper

NM_000141.5

p.S347T

c.1039T>A

1 paper

NM_000141.5

p.G349W

c.1045G>T

1 paper

NM_000141.5

p.G349R

c.1045G>C

1 paper

NM_000141.5

p.G349R

c.1045G>A

2 papers

NM_000141.5

p.G349V

c.1046G>T

1 paper

NM_000141.5

p.G349E

c.1046G>A

1 paper

NM_000141.5

p.G349G

c.1047G>T

1 paper

NM_000141.5

p.N346I

c.1037A>T