Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.L593_K594insGCA

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.L593_K594insGCA
c.1777_1781ins9
Surrounding Variants
1 paper
NM_001128164.2
p.E591G
c.1772A>G
2 papers
NM_001128164.2
p.K589R
c.1766A>G
1 paper
NM_001128164.2
p.K588T
c.1763A>C
1 paper
NM_001128164.2
p.G585R
c.1753G>C
1 paper
NM_001128164.2
p.G585R
c.1753G>A
1 paper
NM_001128164.2
p.E603K
c.1807G>A
1 paper
NM_001128164.2
p.E603V
c.1808A>T
1 paper
NM_001128164.2
p.D607N
c.1819G>A
1 paper
NM_001128164.2
p.I610I
c.1830C>T
1 paper
NM_001128164.2
p.S613N
c.1838G>A
2 papers
NM_001128164.2
p.E616G
c.1847A>G
1 paper
NM_001128164.2
p.R617G
c.1849A>G
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