Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7L2

ATXN7L2

24 papers

Pfam Domains

SCA7aa 255–323UCSCSCA7, zinc-binding domain

Gene Aliases

HGNC Name

ataxin 7 like 2

HGNC Alias Symbols

MGC46534; FLJ00381

Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
1 paper
NM_001350175.2
p.A9T
c.25G>A
1 paper
NM_001350175.2
p.S20N
c.59G>A
1 paper
NM_001350175.2
p.G26G
c.78A>G
1 paper
NM_001350175.2
p.D42D
c.126C>T
1 paper
NM_001350175.2
p.E64K
c.190G>A
1 paper
NM_001350175.2
p.N84D
c.250A>G
1 paper
NM_001350175.2
p.R112L
c.335G>T
1 paper
NM_001350175.2
p.P114R
c.341C>G
1 paper
NM_001350175.2
p.Q124*
c.370C>T
1 paper
NM_001350175.2
p.N130D
c.388A>G
1 paper
NM_001350175.2
p.R227K
c.680G>A
1 paper
NM_001350175.2
p.E236K
c.706G>A
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