Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7
Variant:p.P52P

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.P52P
c.156A>C
Surrounding Variants
1 paper
NM_001377405.1
p.P55L
c.164C>T
1 paper
NM_001377405.1
p.E61K
c.181G>A
1 paper
NM_001377405.1
p.D62G
c.185A>G
3 papers
NM_001377405.1
p.P40Q
c.119C>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
1 paper
NM_001377405.1
p.Q39_P40insQQ
c.115_119ins6
1 paper
NM_001377405.1
p.Q39*
c.115C>T
1 paper
NM_001377405.1
p.G66D
c.197G>A
1 paper
NM_001377405.1
p.Q37P
c.110A>C
1 paper
NM_001377405.1
p.Q36P
c.107A>C
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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."