Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.P283delFs

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
4 papers
NM_000142.5
p.P283delFs
c.849delC
Surrounding Variants
1 paper
NM_000142.5
p.Q282H
c.846G>C
1 paper
NM_000142.5
p.Q282R
c.845A>G
1 paper
NM_000142.5
p.P283T
c.847C>A
11 papers
NM_000142.5
p.P283S
c.847C>T
1 paper
NM_000142.5
p.Q282_P283insCG
c.844_848ins6
1 paper
NM_000142.5
p.Q282E
c.844C>G
4 papers
NM_000142.5
p.Q282*
c.844C>T
4 papers
NM_000142.5
p.H284fs
c.850_851fs
3 papers
NM_000142.5
p.A281V
c.842C>T
2 papers
NM_000142.5
p.H284Y
c.850C>T
1 paper
NM_000142.5
p.H284fs
c.850_851fs
2 papers
NM_000142.5
p.A281T
c.841G>A
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."