Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7
Variant:p.K264R

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
9 papers
NM_001377405.1
p.K264R
c.791A>G
Surrounding Variants
2 papers
NM_001377405.1
p.D266N
c.796G>A
1 paper
NM_001377405.1
p.K260T
c.779A>C
4 papers
NM_001377405.1
p.K257R
c.770A>G
1 paper
NM_001377405.1
p.I251Splc
c.753-7G>T
1 paper
NM_001377405.1
p.P301L
c.902C>T
1 paper
NM_001377405.1
p.I306F
c.916A>T
1 paper
NM_001377405.1
p.P313H
c.938C>A
1 paper
NM_001377405.1
p.L318Q
c.953T>A
1 paper
NM_001377405.1
p.N325S
c.974A>G
1 paper
NM_001377405.1
p.N325K
c.975T>A
1 paper
NM_001377405.1
p.S326S
c.978C>T
1 paper
NM_001377405.1
p.D344N
c.1030G>A
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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."