Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.C342S

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
65 papers
NM_000141.5
p.C342S
c.1024T>A
Surrounding Variants
11 papers
NM_000141.5
p.C342G
c.1024T>G
108 papers
NM_000141.5
p.C342R
c.1024T>C
24 papers
NM_000141.5
p.C342F
c.1025G>T
1 paper
NM_000141.5
p.T341T
c.1023G>T
1 paper
NM_000141.5
p.T341fs
c.1021_1022fs
67 papers
NM_000141.5
p.C342S
c.1025G>C
156 papers
NM_000141.5
p.C342Y
c.1025G>A
2 papers
NM_000141.5
p.T341M
c.1022C>T
44 papers
NM_000141.5
p.C342W
c.1026C>G
1 paper
NM_000141.5
p.T341R
c.1022C>G
1 paper
NM_000141.5
p.C342*
c.1026C>A
44 papers
NM_000141.5
p.T341P
c.1021A>C
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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."