Varaico: Literature-Extracted Genetic Variants

Gene:ATXN7L3
Variant:p.I71T

ATXN7L3

25 papers

Pfam Domains

ATXN7L3Baa 10–44UCSCAtaxin-7-like protein 3B
Sgf11aa 80–112UCSCSgf11 (transcriptional regulation protein)
SCA7aa 202–240UCSCSCA7, zinc-binding domain

Gene Aliases

HGNC Name

ataxin 7 like 3

HGNC Alias Symbol

DKFZp761G2113

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001382309.1
p.I71T
c.212T>C
Surrounding Variants
1 paper
NM_001382309.1
p.P67delFs
c.200delG
1 paper
NM_001382309.1
p.P67fs
c.199_200fs
1 paper
NM_001382309.1
p.W79*
c.236G>A
1 paper
NM_001382309.1
p.W79*
c.237G>A
1 paper
NM_001382309.1
p.S92R
c.274A>C
1 paper
NM_001382309.1
p.S92R
c.276C>G
1 paper
NM_001382309.1
p.S92R
c.276C>A
1 paper
NM_001382309.1
p.A95T
c.283G>A
1 paper
NM_001382309.1
p.L106P
c.317T>C
1 paper
NM_001382309.1
p.G107E
c.320G>A
1 paper
NM_001382309.1
p.S112fs
c.334_335fs
1 paper
NM_001382309.1
p.S112insFs
c.334dupA
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