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.P413R

c.1238C>G

Surrounding Variants

3 papers

NM_000141.5

p.P413L

c.1238C>T

1 paper

NM_000141.5

p.P413S

c.1237C>T

1 paper

NM_000141.5

p.Q412H

c.1236G>T

1 paper

NM_000141.5

p.A414T

c.1240G>A

1 paper

NM_000141.5

p.A414insFs

c.1240dupG

1 paper

NM_000141.5

p.Q412L

c.1235A>T

1 paper

NM_000141.5

p.A414fs

c.1240_1241fs

3 papers

NM_000141.5

p.Q412*

c.1234C>T

1 paper

NM_000141.5

p.S410N

c.1229G>A

2 papers

NM_000141.5

p.H416R

c.1247A>G

1 paper

NM_000141.5

p.D408V

c.1223A>T

1 paper

NM_000141.5

p.D408G

c.1223A>G