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.E325Q

c.973G>C

Surrounding Variants

1 paper

NM_000141.5

p.E325*

c.973G>T

1 paper

NM_000141.5

p.E325K

c.973G>A

1 paper

NM_000141.5

p.I324S

c.971T>G

1 paper

NM_000141.5

p.V326F

c.976G>T

1 paper

NM_000141.5

p.V326L

c.976G>C

1 paper

NM_000141.5

p.V326I

c.976G>A

1 paper

NM_000141.5

p.I324F

c.970A>T

1 paper

NM_000141.5

p.I324V

c.970A>G

2 papers

NM_000141.5

p.V326A

c.977T>C

2 papers

NM_000141.5

p.E323D

c.969G>T

1 paper

NM_000141.5

p.E323insFs

c.968dupA

2 papers

NM_000141.5

p.E323D

c.969G>C