Varaico: Literature-Extracted Genetic Variants

Gene:TOR1A
Variant:p.Q72R

TOR1A

446 papers

RefSeq Summary

The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia n...

Pfam Domains

Torsinaa 44–169UCSCTorsin
TOR1A_Caa 272–329UCSCTorsin-1A, C-terminal domain

Gene Aliases

HGNC Name

torsin family 1 member A

HGNC Previous Symbol

DYT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000113.3
p.Q72R
c.215A>G
Surrounding Variants
1 paper
NM_000113.3
p.Q72insFs
c.215_216insA
2 papers
NM_000113.3
p.Q72*
c.214C>T
2 papers
NM_000113.3
p.Q72E
c.214C>G
1 paper
NM_000113.3
p.H73P
c.218A>C
1 paper
NM_000113.3
p.L69_F70del1
c.207_209delAAG
1 paper
NM_000113.3
p.L74F
c.220C>T
1 paper
NM_000113.3
p.F70L
c.208T>C
1 paper
NM_000113.3
p.N68_L69del1
c.203_205delGGT
1 paper
NM_000113.3
p.D67G
c.200A>G
1 paper
NM_000113.3
p.D67H
c.199G>C
1 paper
NM_000113.3
p.D66_D67insFs
c.198_199ins7
1 paper
NM_000113.3
p.K77_I78Fs
c.229_233delinsTFs
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