Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.H226ins1

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
6 papers
NM_001128164.2
p.H226ins1
c.677_678insGCA
Surrounding Variants
1 paper
NM_001128164.2
p.H226insFs
c.677_678insG
1 paper
NM_001128164.2
p.H226ins3
c.677_678ins9
1 paper
NM_001128164.2
p.H226ins5
c.677_678ins15
4 papers
NM_001128164.2
p.Q225_H226ins0
c.675_677dupGCA
2 papers
NM_001128164.2
p.H226_L227ins2
c.678_679ins6
5 papers
NM_001128164.2
p.Q225del1
c.673_674delCTG
1 paper
NM_001128164.2
p.Q224_H226del0
c.672_677del6
3 papers
NM_001128164.2
p.Q222_H226del0
c.666_677del12
1 paper
NM_001128164.2
p.Q220_H226del0
c.660_677del18
1 paper
NM_001128164.2
p.Q225H
c.675G>T
1 paper
NM_001128164.2
p.Q225_H226ins1
c.675_676insCAG
1 paper
NM_001128164.2
p.Q225H
c.675G>C
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