Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.Q215H

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
7 papers
NM_001128164.2
p.Q215H
c.645G>C
Surrounding Variants
7 papers
NM_001128164.2
p.Q215H
c.645G>T
1 paper
NM_001128164.2
p.Q215_Q216ins1
c.645_646insTCA
1 paper
NM_001128164.2
p.Q214_Q215delins
c.642_645delinsTCAGCAT
3 papers
NM_001128164.2
p.Q216ins1
c.647_648insTCA
1 paper
NM_001128164.2
p.Q216ins3
c.647_648ins9
7 papers
NM_001128164.2
p.Q214H
c.642G>T
2 papers
NM_001128164.2
p.Q216H
c.648G>T
2 papers
NM_001128164.2
p.Q216_Q217ins1
c.648_649insTCA
7 papers
NM_001128164.2
p.Q214H
c.642G>C
2 papers
NM_001128164.2
p.Q216H
c.648G>C
1 paper
NM_001128164.2
p.H209_Q216del0
c.627_647del21
1 paper
NM_001128164.2
p.Q214insFs
c.641_642insC
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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."