Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.S279insFs

FGFR3

3,257 papers

RefSeq Summary

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members ...

Pfam Domains

I-setaa 159–245UCSCImmunoglobulin I-set domain
Ig_3aa 252–343UCSCImmunoglobulin domain
FGFR3_TMaa 372–397UCSCFibroblast growth factor receptor 3 transmembrane domain
PK_Tyr_Ser-Thraa 472–748UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 3

HGNC Previous Symbol

ACH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000142.5
p.S279insFs
c.835_836insA
Surrounding Variants
21 papers
NM_000142.5
p.Y278C
c.833A>G
17 papers
NM_000142.5
p.S279C
c.835A>T
2 papers
NM_000142.5
p.S279N
c.836G>A
2 papers
NM_000142.5
p.Y278H
c.832T>C
1 paper
NM_000142.5
p.S279S
c.837T>C
1 paper
NM_000142.5
p.V277G
c.830T>G
2 papers
NM_000142.5
p.D280V
c.839A>T
1 paper
NM_000142.5
p.V277M
c.829G>A
1 paper
NM_000142.5
p.V277fs
c.829_830fs
1 paper
NM_000142.5
p.D280D
c.840C>T
1 paper
NM_000142.5
p.K276N
c.828G>C
1 paper
NM_000142.5
p.K276N
c.828G>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."