Varaico: Literature-Extracted Genetic Variants

Gene:TOR3A

TOR3A

43 papers

Pfam Domains

Torsinaa 106–234UCSCTorsin
TOR1A_Caa 338–395UCSCTorsin-1A, C-terminal domain

Gene Aliases

HGNC Name

torsin family 3 member A

HGNC Previous Symbol

ADIR

Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
4 papers
NM_022371.4
p.F13L
c.37T>C
4 papers
NM_022371.4
p.F13L
c.39C>A
4 papers
NM_022371.4
p.F13L
c.39C>G
3 papers
NM_022371.4
p.N274K
c.822T>A
3 papers
NM_022371.4
p.N274K
c.822T>G
2 papers
NM_022371.4
p.A82V
c.245C>T
2 papers
NM_022371.4
p.V176M
c.526G>A
1 paper
NM_022371.4
p.R3C
c.7C>T
1 paper
NM_022371.4
p.P18R
c.53C>G
1 paper
NM_022371.4
p.A20S
c.58G>T
1 paper
NM_022371.4
p.P23insFs
c.67_68insA
1 paper
NM_022371.4
p.E35D
c.105G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."