Varaico: Literature-Extracted Genetic Variants

Gene:TOR2A
Variant:p.R190C

TOR2A

29 papers

RefSeq Summary

This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of mul...

Pfam Domains

Torsinaa 35–160UCSCTorsin
Torsinaa 35–160UCSCTorsin
TOR1A_Caa 263–320UCSCTorsin-1A, C-terminal domain

Gene Aliases

HGNC Name

torsin family 2 member A

HGNC Alias Symbols

FLJ14771; TORP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001085347.3
p.R190C
c.568C>T
Surrounding Variants
1 paper
NM_001085347.3
p.Y185Y
c.555C>T
1 paper
NM_001085347.3
p.Y185H
c.553T>C
1 paper
NM_001085347.3
p.W182L
c.545G>T
1 paper
NM_001085347.3
p.I197I
c.591C>T
1 paper
NM_001085347.3
p.S198Splc
c.593+8C>T
2 papers
NM_130459.4
p.W208C
c.624G>T
2 papers
NM_001085347.3
p.S198Splc
c.593+31G>C
NM_130459.4
p.W208C
c.624G>C
1 paper
NM_130459.4
p.G210delFs
c.629delC
1 paper
NM_001085347.3
p.K165*
c.493A>T
1 paper
NM_130459.4
p.L217F
c.649C>T
1 paper
NM_001085347.3
p.R155C
c.463C>T
1 paper
NM_001085347.3
p.L142P
c.425T>C
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