Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.S267C

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
2 papers
NM_000141.5
p.S267C
c.800C>G
Surrounding Variants
3 papers
NM_000141.5
p.S267F
c.800C>T
1 paper
NM_000141.5
p.S267Y
c.800C>A
58 papers
NM_000141.5
p.S267P
c.799T>C
1 paper
NM_000141.5
p.T268A
c.802A>G
1 paper
NM_000141.5
p.T268ins2
c.802_803ins6
1 paper
NM_000141.5
p.A266V
c.797C>T
1 paper
NM_000141.5
p.T268ins1
c.803_804insTGG
2 papers
NM_000141.5
p.T268K
c.803C>A
1 paper
NM_000141.5
p.A266D
c.797C>A
1 paper
NM_000141.5
p.A266S
c.796G>T
5 papers
NM_000141.5
p.A266P
c.796G>C
3 papers
NM_000141.5
p.A266T
c.796G>A
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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."