Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.Q213*

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.Q213*
c.637C>T
Surrounding Variants
1 paper
NM_001128164.2
p.Q212H
c.636G>T
1 paper
NM_001128164.2
p.Q212H
c.636G>C
5 papers
NM_001128164.2
p.H211del1
c.631_632delATG
2 papers
NM_001128164.2
p.H209_Q212del0
c.627_635del9
1 paper
NM_001128164.2
p.Q213ins3
c.638_639ins9
13 papers
NM_001128164.2
p.Q213H
c.639G>T
1 paper
NM_001128164.2
p.Q213delins
c.639delinsTCAG
13 papers
NM_001128164.2
p.Q213H
c.639G>C
8 papers
NM_001128164.2
p.Q208_H209del2
c.622_626del6
1 paper
NM_001128164.2
p.H209_Q212del4
c.625_635del12
1 paper
NM_001128164.2
p.Q214*
c.640C>T
1 paper
NM_001128164.2
p.H211fs
c.631_632fs
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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."