Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7
Variant:p.T872delFs

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.T872delFs
c.2616delC
Surrounding Variants
1 paper
NM_001377405.1
p.I873fs
c.2617_2618fs
1 paper
NM_001377405.1
p.H869fs
c.2605_2606fs
1 paper
NM_001377405.1
p.H869_T870delFs
c.2607_2610del4
1 paper
NM_001377405.1
p.N864S
c.2591A>G
7 papers
NM_001377405.1
p.V862M
c.2584G>A
1 paper
NM_001377405.1
p.A861T
c.2581G>A
1 paper
NM_001377405.1
p.K858R
c.2573A>G
1 paper
NM_001377405.1
p.L885L
c.2655T>C
1 paper
NM_001377405.1
p.K852K
c.2556A>G
1 paper
NM_001377405.1
p.S849N
c.2546G>A
1 paper
NM_001377405.1
p.S843L
c.2528C>T
1 paper
NM_001377405.1
p.T827A
c.2479A>G
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