Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7
Variant:p.E80G

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.E80G
c.239A>G
Surrounding Variants
1 paper
NM_001377405.1
p.E80V
c.239A>T
1 paper
NM_001377405.1
p.S86_P87insGCA
c.256_260ins9
1 paper
NM_001377405.1
p.S86_P87ins4
c.256_260ins12
4 papers
NM_001377405.1
p.S86_P87ins6
c.256_260ins18
2 papers
NM_001377405.1
p.S86_P87ins9
c.256_260ins27
1 paper
NM_001377405.1
p.P87_W98del12
c.259_293del36
1 paper
NM_001377405.1
p.A72A
c.216C>G
1 paper
NM_001377405.1
p.S71P
c.211T>C
1 paper
NM_001377405.1
p.S69P
c.205T>C
1 paper
NM_001377405.1
p.G92A
c.275G>C
1 paper
NM_001377405.1
p.G66D
c.197G>A
1 paper
NM_001377405.1
p.N96D
c.286A>G
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