Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.R173R

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.R173R
c.519C>G
Surrounding Variants
7 papers
NM_000142.5
p.R173H
c.518G>A
1 paper
NM_000142.5
p.F174L
c.520T>C
5 papers
NM_000142.5
p.R173C
c.517C>T
1 paper
NM_000142.5
p.F174L
c.522C>A
2 papers
NM_000142.5
p.F174L
c.522C>G
3 papers
NM_000142.5
p.R175C
c.523C>T
1 paper
NM_000142.5
p.R175delFs
c.524delG
1 paper
NM_000142.5
p.V172A
c.515T>C
28 papers
NM_000142.5
p.R175H
c.524G>A
1 paper
NM_000142.5
p.V172I
c.514G>A
3 papers
NM_000142.5
p.V172F
c.514G>T
3 papers
NM_000142.5
p.R175L
c.524G>T
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."