Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7
Variant:p.Q35P

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
3 papers
NM_001377405.1
p.Q35P
c.104A>C
Surrounding Variants
1 paper
NM_001377405.1
p.Q36P
c.107A>C
1 paper
NM_001377405.1
p.Q33P
c.98A>C
1 paper
NM_001377405.1
p.Q37P
c.110A>C
1 paper
NM_001377405.1
p.Q33K
c.97C>A
1 paper
NM_001377405.1
p.Q39_P40insQQ
c.115_119ins6
1 paper
NM_001377405.1
p.Q39*
c.115C>T
2 papers
NM_001377405.1
p.Q31Q
c.93G>A
1 paper
NM_001377405.1
p.Q39ins4
c.116_117ins12
2 papers
NM_001377405.1
p.Q39ins1
c.116_117insGCC
4 papers
NM_001377405.1
p.Q39P
c.116A>C
3 papers
NM_001377405.1
p.P40Q
c.119C>A
1 paper
NM_001377405.1
p.R29ins1
c.86_87insGCA
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."