Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.T171delFs

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.T171delFs
c.512delC
Surrounding Variants
1 paper
NM_000142.5
p.T171P
c.511A>C
1 paper
NM_000142.5
p.T171I
c.512C>T
1 paper
NM_000142.5
p.N170_T171delins
c.510_511delinsTT
1 paper
NM_000142.5
p.N170Y
c.508A>T
1 paper
NM_000142.5
p.V172I
c.514G>A
3 papers
NM_000142.5
p.V172F
c.514G>T
1 paper
NM_000142.5
p.V172A
c.515T>C
1 paper
NM_000142.5
p.N170_R173del4
c.508_518del12
5 papers
NM_000142.5
p.R173C
c.517C>T
3 papers
NM_000142.5
p.A169T
c.505G>A
7 papers
NM_000142.5
p.R173H
c.518G>A
1 paper
NM_000142.5
p.R173R
c.519C>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."