Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.S298R

ATXN1

422 papers

RefSeq Summary

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clini...

Pfam Domains

ATXN-1_Caa 1–205UCSCAtaxin-1 like family
ATXN-1_Caa 195–558UCSCAtaxin-1 like family
AXHaa 574–687UCSCAtaxin-1 and HBP1 module (AXH)

Gene Aliases

HGNC Name

ataxin 1

HGNC Previous Symbol

SCA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001128164.2
p.S298R
c.892A>C
Surrounding Variants
1 paper
NM_001128164.2
p.S298R
c.894C>G
1 paper
NM_001128164.2
p.S298R
c.894C>A
1 paper
NM_001128164.2
p.H299Y
c.895C>T
1 paper
NM_001128164.2
p.S296S
c.888C>T
1 paper
NM_001128164.2
p.A294V
c.881C>T
1 paper
NM_001128164.2
p.F300_V301delins
c.899_903delinsCTCCA
1 paper
NM_001128164.2
p.Q292*
c.874C>T
1 paper
NM_001128164.2
p.T306I
c.917C>T
1 paper
NM_001128164.2
p.Q288L
c.863A>T
1 paper
NM_001128164.2
p.K308I
c.923A>T
1 paper
NM_001128164.2
p.A309A
c.927T>C
2 papers
NM_001128164.2
p.E310K
c.928G>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."