Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.A638_Q639ins9

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.A638_Q639ins9
c.1912_1916ins27
Surrounding Variants
1 paper
NM_001128164.2
p.R637Q
c.1910G>A
1 paper
NM_001128164.2
p.Q639K
c.1915C>A
3 papers
NM_001128164.2
p.V633_E635del3
c.1897_1904del9
2 papers
NM_001128164.2
p.A627_E635del9
c.1879_1904del27
1 paper
NM_001128164.2
p.A632_G634del3
c.1894_1901del9
1 paper
NM_001128164.2
p.P624_A632del9
c.1870_1895del27
1 paper
NM_001128164.2
p.A632_V633insCC
c.1894_1898ins6
1 paper
NM_001128164.2
p.A632T
c.1894G>A
1 paper
NM_001128164.2
p.A627_I629del3
c.1879_1886del9
1 paper
NM_001128164.2
p.V615_V626del12
c.1843_1877del36
1 paper
NM_001128164.2
p.A627_V628insGCA
c.1879_1883ins9
10 papers
NM_001128164.2
p.P624_V626del3
c.1870_1877del9
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