Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.T183S

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.T183S
c.548C>G
Surrounding Variants
1 paper
NM_000142.5
p.P184T
c.550C>A
1 paper
NM_000142.5
p.P182H
c.545C>A
1 paper
NM_000142.5
p.P182L
c.545C>T
1 paper
NM_000142.5
p.P184L
c.551C>T
1 paper
NM_000142.5
p.N181T
c.542A>C
1 paper
NM_000142.5
p.N181S
c.542A>G
1 paper
NM_000142.5
p.N181D
c.541A>G
1 paper
NM_000142.5
p.S185S
c.555C>T
1 paper
NM_000142.5
p.I186V
c.556A>G
1 paper
NM_000142.5
p.G180D
c.539G>A
1 paper
NM_000142.5
p.I186N
c.557T>A
1 paper
NM_000142.5
p.S187insFs
c.560dupC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."