Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1

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
1–12 of 504 variants
19 papers
NM_001128164.2
p.H209Q
c.627T>G
19 papers
NM_001128164.2
p.H209Q
c.627T>A
13 papers
NM_001128164.2
p.Q208_H209del1
c.624_626delTGC
13 papers
NM_001128164.2
p.Q213H
c.639G>T
13 papers
NM_001128164.2
p.Q213H
c.639G>C
10 papers
NM_001128164.2
p.P624_V626del3
c.1870_1877del9
8 papers
NM_001128164.2
p.H209ins1
c.626_627insGCA
8 papers
NM_001128164.2
p.Q208_H209del2
c.622_626del6
8 papers
NM_001128164.2
p.V626_A627insGCA
c.1876_1880ins9
7 papers
NM_001128164.2
p.Q214H
c.642G>T
7 papers
NM_001128164.2
p.Q214H
c.642G>C
7 papers
NM_001128164.2
p.Q215H
c.645G>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."