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

48 papers

NM_001320654.2

p.Y112C

c.335A>G

NM_000141.5

p.Y340C

c.1019A>G

Surrounding Variants

1 paper

NM_000141.5

p.Y340F

c.1019A>T

5 papers

NM_000141.5

p.Y340S

c.1019A>C

1 paper

NM_000141.5

p.G338_Y340delFs

c.1012_1018del7

33 papers

NM_000141.5

p.Y340H

c.1018T>C

3 papers

NM_000141.5

p.Y340N

c.1018T>A

44 papers

NM_000141.5

p.T341P

c.1021A>C

1 paper

NM_000141.5

p.E339fs

c.1015_1016fs

2 papers

NM_000141.5

p.T341M

c.1022C>T

1 paper

NM_000141.5

p.T341R

c.1022C>G

2 papers

NM_000141.5

p.E339*

c.1015G>T

1 paper

NM_000141.5

p.T341T

c.1023G>T

1 paper

NM_000141.5

p.T341fs

c.1021_1022fs