Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7

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
1–12 of 165 variants
9 papers
NM_001377405.1
p.K264R
c.791A>G
7 papers
NM_001377405.1
p.V862M
c.2584G>A
5 papers
NM_001377405.1
p.R29ins2
c.86_87ins6
4 papers
NM_001377405.1
p.Q39P
c.116A>C
4 papers
NM_001377405.1
p.S86_P87ins6
c.256_260ins18
4 papers
NM_001377405.1
p.K257R
c.770A>G
3 papers
NM_001377405.1
p.Q35P
c.104A>C
3 papers
NM_001377405.1
p.P40Q
c.119C>A
2 papers
NM_001377405.1
p.A5D
c.14C>A
2 papers
NM_001377405.1
p.A20_G21del1
c.59_61delCGG
2 papers
NM_001377405.1
p.G22R
c.64G>A
2 papers
NM_001377405.1
p.R29ins3
c.86_87ins9
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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."