Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.A611P

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.A611P
c.1831G>C
Surrounding Variants
3 papers
NM_000141.5
p.A611S
c.1831G>T
2 papers
NM_000141.5
p.A611T
c.1831G>A
1 paper
NM_000141.5
p.L610L
c.1830G>T
1 paper
NM_000141.5
p.L610L
c.1830G>C
1 paper
NM_000141.5
p.L610L
c.1830G>A
3 papers
NM_000141.5
p.A611V
c.1832C>T
2 papers
NM_000141.5
p.A611G
c.1832C>G
1 paper
NM_000141.5
p.A611D
c.1832C>A
1 paper
NM_000141.5
p.L610R
c.1829T>G
2 papers
NM_001144913.1
p.L611P
c.1832T>C
NM_000141.5
p.L610P
c.1829T>C
1 paper
NM_000141.5
p.L610Q
c.1829T>A
1 paper
NM_000141.5
p.A611A
c.1833C>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."