Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.L306P

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.L306P
c.917T>C
Surrounding Variants
1 paper
NM_000141.5
p.L306L
c.918G>T
1 paper
NM_000141.5
p.L306M
c.916C>A
1 paper
NM_000141.5
p.P307S
c.919C>T
1 paper
NM_000141.5
p.P307A
c.919C>G
1 paper
NM_000141.5
p.G305V
c.914G>T
1 paper
NM_000141.5
p.G305E
c.914G>A
1 paper
NM_000141.5
p.D304del1
c.910_911delGTC
1 paper
NM_000141.5
p.P307L
c.920C>T
2 papers
NM_000141.5
p.G305W
c.913G>T
9 papers
NM_000141.5
p.G305R
c.913G>C
10 papers
NM_000141.5
p.G305R
c.913G>A
2 papers
NM_000141.5
p.P307P
c.921C>G
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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."