Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.G54V

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.G54V
c.161G>T
Surrounding Variants
3 papers
NM_000142.5
p.G54E
c.161G>A
3 papers
NM_000142.5
p.G54R
c.160G>A
3 papers
NM_000142.5
p.G54R
c.160G>C
1 paper
NM_000142.5
p.G54_S60del0
c.162_179del18
1 paper
NM_000142.5
p.S53R
c.159C>A
1 paper
NM_000142.5
p.S53R
c.159C>G
1 paper
NM_000142.5
p.D55N
c.163G>A
2 papers
NM_000142.5
p.D55G
c.164A>G
1 paper
NM_000142.5
p.D55delFs
c.165delT
2 papers
NM_000142.5
p.S53N
c.158G>A
2 papers
NM_000142.5
p.S53T
c.158G>C
1 paper
NM_000142.5
p.S53R
c.157A>C
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."