Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.H211fs

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.H211fs
c.631_632fs
Surrounding Variants
6 papers
NM_001128164.2
p.H211Q
c.633T>G
6 papers
NM_001128164.2
p.H211Q
c.633T>A
1 paper
NM_001128164.2
p.Q208_H211del0
c.624_632del9
1 paper
NM_001128164.2
p.H211L
c.632A>T
1 paper
NM_001128164.2
p.H211insFs
c.632_633insCC
1 paper
NM_001128164.2
p.H211Y
c.631C>T
6 papers
NM_001128164.2
p.Q210H
c.630G>T
1 paper
NM_001128164.2
p.Q212H
c.636G>T
6 papers
NM_001128164.2
p.Q210H
c.630G>C
1 paper
NM_001128164.2
p.Q212H
c.636G>C
5 papers
NM_001128164.2
p.H211del1
c.631_632delATG
4 papers
NM_001128164.2
p.H209del1
c.625_626delATG
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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."