Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.Q558K

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.Q558K
c.1672C>A
Surrounding Variants
1 paper
NM_001128164.2
p.Q558*
c.1672C>T
1 paper
NM_001128164.2
p.V560L
c.1678G>T
1 paper
NM_001128164.2
p.V560L
c.1678G>C
1 paper
NM_001128164.2
p.A566insFs
c.1697dupC
1 paper
NM_001128164.2
p.P568T
c.1702C>A
1 paper
NM_001128164.2
p.A546V
c.1637C>T
2 papers
NM_001128164.2
p.P545T
c.1633C>A
1 paper
NM_001128164.2
p.Q541H
c.1623G>T
1 paper
NM_001128164.2
p.Q541H
c.1623G>C
1 paper
NM_001128164.2
p.T540T
c.1620C>T
1 paper
NM_001128164.2
p.V539delFs
c.1617delG
1 paper
NM_001128164.2
p.E536K
c.1606G>A
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