Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.R373C

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
2 papers
NM_001128164.2
p.R373C
c.1117C>T
Surrounding Variants
1 paper
NM_001128164.2
p.P375S
c.1123C>T
1 paper
NM_001128164.2
p.S376L
c.1127C>T
1 paper
NM_001128164.2
p.G377R
c.1129G>C
1 paper
NM_001128164.2
p.G377R
c.1129G>A
1 paper
NM_001128164.2
p.V378I
c.1132G>A
1 paper
NM_001128164.2
p.P367R
c.1100C>G
1 paper
NM_001128164.2
p.G377_V378delFs
c.1129_1133del5
1 paper
NM_001128164.2
p.P367A
c.1099C>G
1 paper
NM_001128164.2
p.M383I
c.1149G>T
1 paper
NM_001128164.2
p.M383I
c.1149G>C
1 paper
NM_001128164.2
p.M383I
c.1149G>A
1 paper
NM_001128164.2
p.V362_V363ins8
c.1084_1088ins24
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