Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.R579R

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.R579R
c.1737G>A
Surrounding Variants
1 paper
NM_000141.5
p.R579R
c.1737G>T
1 paper
NM_000141.5
p.R579R
c.1737G>C
2 papers
NM_000141.5
p.R579L
c.1736G>T
2 papers
NM_000141.5
p.R579P
c.1736G>C
2 papers
NM_000141.5
p.R579Q
c.1736G>A
1 paper
NM_000141.5
p.R580W
c.1738A>T
1 paper
NM_000141.5
p.R580G
c.1738A>G
1 paper
NM_000141.5
p.R580R
c.1738A>C
2 papers
NM_000141.5
p.R580M
c.1739G>T
1 paper
NM_000141.5
p.R580T
c.1739G>C
1 paper
NM_000141.5
p.R580K
c.1739G>A
2 papers
NM_000141.5
p.R579W
c.1735C>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."