Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7
Variant:p.S720_S721ins0

ATXN7

236 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

SCA7aa 327–395UCSCSCA7, zinc-binding domain

Gene Aliases

HGNC Name

ataxin 7

HGNC Previous Symbol

SCA7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001377405.1
p.S720_S721ins0
c.2160_2162dupCTC
Surrounding Variants
1 paper
NM_001377405.1
p.L713L
c.2137C>T
1 paper
NM_001377405.1
p.N709S
c.2126A>G
2 papers
NM_001128149.3
p.E587K
c.1759G>A
NM_001377405.1
p.E732K
c.2194G>A
2 papers
NM_001377405.1
p.A695V
c.2084C>T
1 paper
NM_001377405.1
p.T749M
c.2246C>T
1 paper
NM_001377405.1
p.A767delFs
c.2299delG
1 paper
NM_001377405.1
p.S664C
c.1991C>G
1 paper
NM_001377405.1
p.R771W
c.2311C>T
1 paper
NM_001377405.1
p.V662F
c.1984G>T
1 paper
NM_001377405.1
p.S661S
c.1983G>A
1 paper
NM_001377405.1
p.S661L
c.1982C>T
1 paper
NM_001377405.1
p.R777G
c.2329A>G
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."