Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.Q259L

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.Q259L
c.776A>T
Surrounding Variants
4 papers
NM_000141.5
p.Q259*
c.775C>T
1 paper
NM_000141.5
p.Q259K
c.775C>A
1 paper
NM_000141.5
p.A260S
c.778G>T
1 paper
NM_000141.5
p.A260T
c.778G>A
2 papers
NM_000141.5
p.A260V
c.779C>T
1 paper
NM_000141.5
p.A260fs
c.778_779fs
1 paper
NM_000141.5
p.A260delFs
c.778_779delGC
3 papers
NM_000141.5
p.G261*
c.781G>T
4 papers
NM_000141.5
p.G261R
c.781G>C
4 papers
NM_000141.5
p.G261R
c.781G>A
1 paper
NM_000141.5
p.I257S
c.770T>G
1 paper
NM_000141.5
p.G261V
c.782G>T
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."