Varaico: Literature-Extracted Genetic Variants

Gene:TOR3A
Variant:p.I268fs

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.I268fs
c.802_803fs
Surrounding Variants
1 paper
NM_022371.4
p.I268fs
c.802_803fs
1 paper
NM_022371.4
p.I268_F269delFs
c.802_805del4
1 paper
NM_022371.4
p.W266C
c.798G>C
1 paper
NM_022371.4
p.W266C
c.798G>T
1 paper
NM_022371.4
p.E236Q
c.706G>C
1 paper
NM_022371.4
p.D235N
c.703G>A
1 paper
NM_022371.4
p.K213_E214Splc
c.639+1G>A
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
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