Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.P624_V626del3

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
10 papers
NM_001128164.2
p.P624_V626del3
c.1870_1877del9
Surrounding Variants
1 paper
NM_001128164.2
p.A627_V628insGCA
c.1879_1883ins9
1 paper
NM_001128164.2
p.V615_V626del12
c.1843_1877del36
1 paper
NM_001128164.2
p.V626A
c.1877T>C
1 paper
NM_001128164.2
p.V626_A627insG
c.1876_1880ins3
8 papers
NM_001128164.2
p.V626_A627insGCA
c.1876_1880ins9
1 paper
NM_001128164.2
p.V626_A627ins5
c.1876_1880ins15
3 papers
NM_001128164.2
p.V626_A627ins6
c.1876_1880ins18
2 papers
NM_001128164.2
p.V626_A627ins9
c.1876_1880ins27
1 paper
NM_001128164.2
p.V626_A627ins15
c.1876_1880ins45
1 paper
NM_001128164.2
p.A627_I629del3
c.1879_1886del9
1 paper
NM_001128164.2
p.A632_V633insCC
c.1894_1898ins6
1 paper
NM_001128164.2
p.A632T
c.1894G>A
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