Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.D160E

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.D160E
c.480C>A
Surrounding Variants
1 paper
NM_000142.5
p.D160E
c.480C>G
1 paper
NM_000142.5
p.K161_P167del7
c.481_500del21
1 paper
NM_000142.5
p.K161E
c.481A>G
1 paper
NM_000142.5
p.K161_L163delFs
c.482_488del7
1 paper
NM_000142.5
p.D160N
c.478G>A
1 paper
NM_000142.5
p.D160delFs
c.479delA
2 papers
NM_000142.5
p.K162*
c.484A>T
1 paper
NM_000142.5
p.K162_L163delFs
c.485_488del4
1 paper
NM_000142.5
p.R158R
c.474G>T
1 paper
NM_000142.5
p.L163delFs
c.487delC
6 papers
NM_000142.5
p.R158Q
c.473G>A
5 papers
NM_000142.5
p.R158L
c.473G>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."