Varaico: Literature-Extracted Genetic Variants

Gene:TOR3A
Variant:p.I329T

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.I329T
c.986T>C
Surrounding Variants
1 paper
NM_022371.4
p.N327T
c.980A>C
1 paper
NM_022371.4
p.R341G
c.1021C>G
1 paper
NM_022371.4
p.R348Q
c.1043G>A
1 paper
NM_022371.4
p.Q368_M369del2
c.1102_1106del6
1 paper
NM_022371.4
p.Q368_M369del1
c.1104_1106delGAT
1 paper
NM_022371.4
p.E303A
c.908A>C
1 paper
NM_022371.4
p.E282fs
c.844_845fs
1 paper
NM_022371.4
p.N281_V283delFs
c.843_847del5
3 papers
NM_022371.4
p.N274K
c.822T>A
3 papers
NM_022371.4
p.N274K
c.822T>G
1 paper
NM_022371.4
p.I268fs
c.802_803fs
1 paper
NM_022371.4
p.I268fs
c.802_803fs
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