Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.P278Q

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.P278Q
c.833C>A
Surrounding Variants
1 paper
NM_001128164.2
p.P278L
c.833C>T
1 paper
NM_001128164.2
p.L281P
c.842T>C
1 paper
NM_001128164.2
p.T275S
c.823A>T
1 paper
NM_001128164.2
p.Q274Q
c.822G>A
1 paper
NM_001128164.2
p.Q274P
c.821A>C
1 paper
NM_001128164.2
p.L281_T282del2
c.841_845del6
1 paper
NM_001128164.2
p.P285L
c.854C>T
1 paper
NM_001128164.2
p.H271Y
c.811C>T
1 paper
NM_001128164.2
p.H269Q
c.807C>G
1 paper
NM_001128164.2
p.H269Q
c.807C>A
1 paper
NM_001128164.2
p.H269P
c.806A>C
1 paper
NM_001128164.2
p.H269Y
c.805C>T
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