Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.E292V

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.E292V
c.875A>T
Surrounding Variants
1 paper
NM_000142.5
p.E292D
c.876G>C
1 paper
NM_000142.5
p.E292D
c.876G>T
3 papers
NM_000142.5
p.V293E
c.878T>A
2 papers
NM_000142.5
p.V291M
c.871G>A
1 paper
NM_000142.5
p.N294delFs
c.880delA
1 paper
NM_000142.5
p.H290_N294delFs
c.870_880del11
14 papers
NM_000142.5
p.N294N
c.882T>C
3 papers
NM_000142.5
p.G295C
c.883G>T
1 paper
NM_000142.5
p.H290delFs
c.868delC
2 papers
NM_000142.5
p.K289R
c.866A>G
1 paper
NM_000142.5
p.G295D
c.884G>A
1 paper
NM_000142.5
p.K289*
c.865A>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."