Varaico: Literature-Extracted Genetic Variants

Gene:TOR3A
Variant:p.K213_E214Splc

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
Selected Variant
1 paper
NM_022371.4
p.K213_E214Splc
c.639+1G>A
Surrounding Variants
1 paper
NM_022371.4
p.F197L
c.591C>A
1 paper
NM_022371.4
p.F197L
c.591C>G
1 paper
NM_022371.4
p.F197L
c.589T>C
1 paper
NM_022371.4
p.D187H
c.559G>C
1 paper
NM_022371.4
p.E182D
c.546G>C
1 paper
NM_022371.4
p.E182D
c.546G>T
2 papers
NM_022371.4
p.V176M
c.526G>A
1 paper
NM_022371.4
p.K173E
c.517A>G
1 paper
NM_022371.4
p.G167S
c.499G>A
1 paper
NM_022371.4
p.T154P
c.460A>C
1 paper
NM_022371.4
p.R149G
c.445A>G
1 paper
NM_022371.4
p.D129N
c.385G>A
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