Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7
Variant:p.R777G

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.R777G
c.2329A>G
Surrounding Variants
1 paper
NM_001377405.1
p.G778delFs
c.2333delG
1 paper
NM_001377405.1
p.G778delFs
c.2334delC
2 papers
NM_001377405.1
p.P780L
c.2339C>T
1 paper
NM_001377405.1
p.R771W
c.2311C>T
1 paper
NM_001377405.1
p.A767delFs
c.2299delG
1 paper
NM_001377405.1
p.T749M
c.2246C>T
2 papers
NM_001128149.3
p.E587K
c.1759G>A
NM_001377405.1
p.E732K
c.2194G>A
1 paper
NM_001377405.1
p.S823F
c.2468C>T
1 paper
NM_001377405.1
p.T827A
c.2479A>G
1 paper
NM_001377405.1
p.S720_S721ins0
c.2160_2162dupCTC
1 paper
NM_001377405.1
p.L713L
c.2137C>T
1 paper
NM_001377405.1
p.S843L
c.2528C>T
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