Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.V73A

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.V73A
c.218T>C
Surrounding Variants
1 paper
NM_000142.5
p.V73G
c.218T>G
1 paper
NM_000142.5
p.V73I
c.217G>A
1 paper
NM_000142.5
p.V73L
c.217G>C
2 papers
NM_000142.5
p.V73fs
c.217_218fs
1 paper
NM_000142.5
p.W74insFs
c.220_221insC
1 paper
NM_000142.5
p.T72N
c.215C>A
1 paper
NM_000142.5
p.T72S
c.215C>G
1 paper
NM_000142.5
p.T72I
c.215C>T
1 paper
NM_000142.5
p.W74*
c.221G>A
1 paper
NM_000142.5
p.W74*
c.222G>A
1 paper
NM_000142.5
p.W74C
c.222G>T
1 paper
NM_000142.5
p.P71_T72insFs
c.213_214insT
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."