Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.C278delins

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.C278delins
c.833_834delinsTT
Surrounding Variants
1 paper
NM_000141.5
p.C278W
c.834C>G
104 papers
NM_000141.5
p.C278F
c.833G>T
1 paper
NM_000141.5
p.C278Fs
c.833delinsTTFs
14 papers
NM_000141.5
p.C278Y
c.833G>A
2 papers
NM_000141.5
p.K279N
c.837G>T
2 papers
NM_000141.5
p.K279N
c.837G>C
1 paper
NM_000141.5
p.E275_V277ins1
c.824_829dup6
3 papers
NM_000141.5
p.V277A
c.830T>C
1 paper
NM_000141.5
p.V280D
c.839T>A
1 paper
NM_000141.5
p.V277F
c.829G>T
1 paper
NM_000141.5
p.V277I
c.829G>A
1 paper
NM_000141.5
p.F276L
c.828T>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."