Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.H209insFs

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.H209insFs
c.626_627ins5
Surrounding Variants
1 paper
NM_001128164.2
p.H209insFs
c.626_627insG
8 papers
NM_001128164.2
p.H209ins1
c.626_627insGCA
3 papers
NM_001128164.2
p.H209ins2
c.626_627ins6
2 papers
NM_001128164.2
p.H209ins3
c.626_627ins9
1 paper
NM_001128164.2
p.H209ins5
c.626_627ins15
4 papers
NM_001128164.2
p.H209_Q210ins1
c.627_628insGCA
1 paper
NM_001128164.2
p.Q207_H209ins1
c.621_626dup6
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
1 paper
NM_001128164.2
p.Q205_H209del0
c.615_626del12
2 papers
NM_001128164.2
p.Q208H
c.624G>T
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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."