Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7
Variant:p.A24E

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.A24E
c.71C>A
Surrounding Variants
1 paper
NM_001377405.1
p.A24_Q32delFs
c.72_94del23
2 papers
NM_001377405.1
p.G22R
c.64G>A
1 paper
NM_001377405.1
p.R29_Q33del5
c.85_98del15
1 paper
NM_001377405.1
p.R29insFs
c.86_87ins4
1 paper
NM_001377405.1
p.R29_Q30insQ
c.85_89ins3
1 paper
NM_001377405.1
p.R29fs
c.85_86fs
1 paper
NM_001377405.1
p.R29ins1
c.86_87insGCA
5 papers
NM_001377405.1
p.R29ins2
c.86_87ins6
2 papers
NM_001377405.1
p.R29ins3
c.86_87ins9
1 paper
NM_001377405.1
p.R29_Q33del0
c.87_98del12
2 papers
NM_001377405.1
p.Q31Q
c.93G>A
1 paper
NM_001377405.1
p.A16T
c.46G>A
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