Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.R612T

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
6 papers
NM_000141.5
p.R612T
c.1835G>C
Surrounding Variants
1 paper
NM_000141.5
p.R612I
c.1835G>T
2 papers
NM_000141.5
p.R612K
c.1835G>A
1 paper
NM_000141.5
p.R612S
c.1836A>T
1 paper
NM_000141.5
p.R612*
c.1834A>T
2 papers
NM_000141.5
p.R612G
c.1834A>G
1 paper
NM_000141.5
p.R612R
c.1836A>G
1 paper
NM_000141.5
p.R612S
c.1836A>C
1 paper
NM_000141.5
p.R612R
c.1834A>C
1 paper
NM_000141.5
p.G613C
c.1837G>T
4 papers
NM_000141.5
p.G613R
c.1837G>C
4 papers
NM_000141.5
p.G613S
c.1837G>A
1 paper
NM_000141.5
p.A611A
c.1833C>T
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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."