Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.S358Y

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.S358Y
c.1073C>A
Surrounding Variants
1 paper
NM_001128164.2
p.S358C
c.1073C>G
1 paper
NM_001128164.2
p.E357G
c.1070A>G
1 paper
NM_001128164.2
p.R359S
c.1077G>T
1 paper
NM_001128164.2
p.R359S
c.1077G>C
1 paper
NM_001128164.2
p.E357K
c.1069G>A
1 paper
NM_001128164.2
p.H360Q
c.1080C>A
1 paper
NM_001128164.2
p.V362_V363ins8
c.1084_1088ins24
1 paper
NM_001128164.2
p.H354R
c.1061A>G
1 paper
NM_001128164.2
p.P353S
c.1057C>T
2 papers
NM_001128164.2
p.S351L
c.1052C>T
1 paper
NM_001128164.2
p.K350N
c.1050G>T
1 paper
NM_001128164.2
p.K350N
c.1050G>C
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