Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.A505G

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.A505G
c.1514C>G
Surrounding Variants
1 paper
NM_001128164.2
p.P506S
c.1516C>T
1 paper
NM_001128164.2
p.A504T
c.1510G>A
1 paper
NM_001128164.2
p.A501V
c.1502C>T
1 paper
NM_001128164.2
p.T510M
c.1529C>T
2 papers
NM_001128164.2
p.P513S
c.1537C>T
1 paper
NM_001128164.2
p.P513T
c.1537C>A
1 paper
NM_001128164.2
p.P513H
c.1538C>A
1 paper
NM_001128164.2
p.Q514P
c.1541A>C
1 paper
NM_001128164.2
p.G495D
c.1484G>A
1 paper
NM_001128164.2
p.A517T
c.1549G>A
1 paper
NM_001128164.2
p.L490V
c.1468C>G
1 paper
NM_001128164.2
p.V523F
c.1567G>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."