Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.C176fs

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.C176fs
c.526_527fs
Surrounding Variants
3 papers
NM_000142.5
p.C176Y
c.527G>A
6 papers
NM_000142.5
p.C176F
c.527G>T
28 papers
NM_000142.5
p.R175H
c.524G>A
3 papers
NM_000142.5
p.R175L
c.524G>T
1 paper
NM_000142.5
p.P177T
c.529C>A
3 papers
NM_000142.5
p.R175C
c.523C>T
2 papers
NM_000142.5
p.P177S
c.529C>T
1 paper
NM_000142.5
p.R175delFs
c.524delG
1 paper
NM_000142.5
p.F174L
c.522C>A
2 papers
NM_000142.5
p.F174L
c.522C>G
2 papers
NM_000142.5
p.P177L
c.530C>T
1 paper
NM_000142.5
p.P177P
c.531A>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."