Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.C9W

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.C9W
c.27C>G
Surrounding Variants
2 papers
NM_000141.5
p.C9S
c.26G>C
1 paper
NM_000141.5
p.L10P
c.29T>C
2 papers
NM_000141.5
p.C9S
c.25T>A
2 papers
NM_000141.5
p.I8S
c.23T>G
1 paper
NM_000141.5
p.L10insFs
c.30dupG
3 papers
NM_000141.5
p.V11D
c.32T>A
1 paper
NM_000141.5
p.V11V
c.33C>T
1 paper
NM_000141.5
p.R6insFs
c.18dupT
1 paper
NM_000141.5
p.V11fs
c.31_32fs
3 papers
NM_000141.5
p.V12L
c.34G>T
1 paper
NM_000141.5
p.V12L
c.34G>C
11 papers
NM_000141.5
p.V12M
c.34G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."