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.V332G

c.995T>G

Surrounding Variants

1 paper

NM_000141.5

p.V332A

c.995T>C

1 paper

NM_000141.5

p.V332I

c.994G>A

1 paper

NM_000141.5

p.V332fs

c.994_995fs

1 paper

NM_000141.5

p.N331_V332insFs

c.993_994insCT

1 paper

NM_000141.5

p.T333A

c.997A>G

1 paper

NM_000141.5

p.T333P

c.997A>C

2 papers

NM_000141.5

p.T333I

c.998C>T

1 paper

NM_000141.5

p.T333N

c.998C>A

14 papers

NM_000141.5

p.N331I

c.992A>T

1 paper

NM_000141.5

p.F334Y

c.1001T>A

1 paper

NM_000141.5

p.R330L

c.989G>T

2 papers

NM_000141.5

p.R330Q

c.989G>A