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.I383T

c.1148T>C

Surrounding Variants

1 paper

NM_000141.5

p.I383K

c.1148T>A

2 papers

NM_000141.5

p.I383L

c.1147A>T

2 papers

NM_000141.5

p.I383L

c.1147A>C

2 papers

NM_000141.5

p.G384W

c.1150G>T

1 paper

NM_000141.5

p.G384_V385insC

c.1150_1154ins3

22 papers

NM_000141.5

p.G384R

c.1150G>C

23 papers

NM_000141.5

p.G384R

c.1150G>A

1 paper

NM_000141.5

p.C382_I383del2

c.1144_1148del6

1 paper

NM_000141.5

p.C382W

c.1146C>G

1 paper

NM_000141.5

p.C382fs

c.1144_1145fs

2 papers

NM_000141.5

p.G384V

c.1151G>T

1 paper

NM_000141.5

p.C382F

c.1145G>T