Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.E615D

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.E615D
c.1845G>T
Surrounding Variants
1 paper
NM_000141.5
p.E615D
c.1845G>C
1 paper
NM_000141.5
p.E615E
c.1845G>A
1 paper
NM_000141.5
p.Y616D
c.1846T>G
1 paper
NM_000141.5
p.Y616H
c.1846T>C
1 paper
NM_000141.5
p.Y616N
c.1846T>A
1 paper
NM_000141.5
p.E615V
c.1844A>T
1 paper
NM_000141.5
p.E615G
c.1844A>G
1 paper
NM_000141.5
p.E615A
c.1844A>C
1 paper
NM_000141.5
p.E615*
c.1843G>T
1 paper
NM_000141.5
p.E615Q
c.1843G>C
3 papers
NM_000141.5
p.E615K
c.1843G>A
1 paper
NM_000141.5
p.Y616F
c.1847A>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."