Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.N571H

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.N571H
c.1711A>C
Surrounding Variants
1 paper
NM_000141.5
p.N571Y
c.1711A>T
1 paper
NM_000141.5
p.N571D
c.1711A>G
1 paper
NM_000141.5
p.G570G
c.1710C>T
1 paper
NM_000141.5
p.G570G
c.1710C>G
2 papers
NM_000141.5
p.G570G
c.1710C>A
1 paper
NM_000141.5
p.N571I
c.1712A>T
1 paper
NM_000141.5
p.N571S
c.1712A>G
1 paper
NM_000141.5
p.N571T
c.1712A>C
2 papers
NM_000141.5
p.G570V
c.1709G>T
1 paper
NM_000141.5
p.G570A
c.1709G>C
2 papers
NM_000141.5
p.G570D
c.1709G>A
1 paper
NM_000141.5
p.N571N
c.1713C>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."