Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.C119S

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.C119S
c.356G>C
Surrounding Variants
1 paper
NM_000142.5
p.C119S
c.355T>A
1 paper
NM_000142.5
p.L118V
c.352C>G
1 paper
NM_000142.5
p.V117I
c.349G>A
1 paper
NM_000142.5
p.S122C
c.364A>T
1 paper
NM_000142.5
p.R116R
c.348C>T
5 papers
NM_000142.5
p.R116H
c.347G>A
1 paper
NM_000142.5
p.S122T
c.365G>C
1 paper
NM_000142.5
p.V117_H120del4
c.349_359del12
1 paper
NM_000142.5
p.R116G
c.346C>G
3 papers
NM_000142.5
p.R116C
c.346C>T
1 paper
NM_000142.5
p.V123M
c.367G>A
8 papers
NM_000142.5
p.Q115R
c.344A>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."