Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.A578D

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.A578D
c.1733C>A
Surrounding Variants
2 papers
NM_000141.5
p.A578V
c.1733C>T
2 papers
NM_000141.5
p.A578G
c.1733C>G
3 papers
NM_000141.5
p.A578S
c.1732G>T
1 paper
NM_000141.5
p.A578P
c.1732G>C
1 paper
NM_000141.5
p.A578T
c.1732G>A
1 paper
NM_000141.5
p.A578A
c.1734C>T
1 paper
NM_000141.5
p.A578A
c.1734C>G
1 paper
NM_000141.5
p.A578A
c.1734C>A
2 papers
NM_000141.5
p.R579W
c.1735C>T
1 paper
NM_000141.5
p.R579G
c.1735C>G
2 papers
NM_000141.5
p.R579R
c.1735C>A
1 paper
NM_000141.5
p.R577R
c.1731A>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."