Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.K300delFs

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.K300delFs
c.898delT
Surrounding Variants
1 paper
NM_000141.5
p.K300N
c.900A>T
7 papers
NM_000141.5
p.Y301C
c.902A>G
1 paper
NM_000141.5
p.K300N
c.900A>C
1 paper
NM_000141.5
p.S299_K300delins
c.896_899delinsG
1 paper
NM_000141.5
p.Y301*
c.903C>G
1 paper
NM_000141.5
p.Y301*
c.903C>A
4 papers
NM_000141.5
p.K300R
c.899A>G
4 papers
NM_000141.5
p.G302W
c.904G>T
2 papers
NM_000141.5
p.G302R
c.904G>C
2 papers
NM_000141.5
p.G302R
c.904G>A
2 papers
NM_000141.5
p.G302E
c.905G>A
1 paper
NM_000141.5
p.G302fs
c.904_905fs
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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."