Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.K529N

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.K529N
c.1587G>C
Surrounding Variants
1 paper
NM_001128164.2
p.K529N
c.1587G>T
1 paper
NM_001128164.2
p.P528L
c.1583C>T
1 paper
NM_001128164.2
p.N534Y
c.1600A>T
1 paper
NM_001128164.2
p.E536K
c.1606G>A
1 paper
NM_001128164.2
p.V523F
c.1567G>T
1 paper
NM_001128164.2
p.V539delFs
c.1617delG
1 paper
NM_001128164.2
p.T540T
c.1620C>T
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.A517T
c.1549G>A
2 papers
NM_001128164.2
p.P545T
c.1633C>A
1 paper
NM_001128164.2
p.Q514P
c.1541A>C
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