Varaico: Literature-Extracted Genetic Variants

Gene:TOR4A
Variant:p.R121L

TOR4A

27 papers

Pfam Domains

Torsinaa 137–257UCSCTorsin

Gene Aliases

HGNC Name

torsin family 4 member A

HGNC Previous Symbol

C9orf167

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017723.3
p.R121L
c.362G>T
Surrounding Variants
1 paper
NM_017723.3
p.L124L
c.372G>A
1 paper
NM_017723.3
p.R107C
c.319C>T
1 paper
NM_017723.3
p.P103L
c.308C>T
1 paper
NM_017723.3
p.K41N
c.123A>C
1 paper
NM_017723.3
p.K41N
c.123A>T
1 paper
NM_017723.3
p.R40H
c.119G>A
1 paper
NM_017723.3
p.Q223K
c.667C>A
1 paper
NM_017723.3
p.A14insFs
c.41dupC
1 paper
NM_017723.3
p.A14fs
c.40_41fs
1 paper
NM_017723.3
p.A244T
c.730G>A
1 paper
NM_017723.3
p.R246H
c.737G>A
1 paper
NM_017723.3
p.R287L
c.860G>T
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