Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.P254L

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.P254L
c.761C>T
Surrounding Variants
1 paper
NM_001128164.2
p.P254P
c.762G>C
1 paper
NM_001128164.2
p.P254P
c.762G>A
1 paper
NM_001128164.2
p.S253Y
c.758C>A
1 paper
NM_001128164.2
p.Q255H
c.765G>T
1 paper
NM_001128164.2
p.Q255H
c.765G>C
1 paper
NM_001128164.2
p.S251P
c.751T>C
1 paper
NM_001128164.2
p.G258C
c.772G>T
1 paper
NM_001128164.2
p.R259L
c.776G>T
1 paper
NM_001128164.2
p.A261V
c.782C>T
1 paper
NM_001128164.2
p.S262A
c.784T>G
1 paper
NM_001128164.2
p.P263S
c.787C>T
1 paper
NM_001128164.2
p.N245I
c.734A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."