Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.L163L

THAP1

204 papers

RefSeq Summary

The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear...

Pfam Domains

THAPaa 5–81UCSCTHAP domain

Gene Aliases

HGNC Name

THAP domain containing 1

HGNC Previous Symbol

DYT6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_018105.3
p.L163L
c.489C>G
Surrounding Variants
1 paper
NM_018105.3
p.K162N
c.486G>T
1 paper
NM_018105.3
p.K162N
c.486G>C
1 paper
NM_018105.3
p.K162*
c.484A>T
3 papers
NM_018105.3
p.T165T
c.495C>T
1 paper
NM_018105.3
p.A166_Q167insA
c.496_500ins3
14 papers
NM_018105.3
p.A166T
c.496G>A
1 paper
NM_018105.3
p.A166V
c.497C>T
3 papers
NM_018105.3
p.Q167*
c.499C>T
1 paper
NM_018105.3
p.L159H
c.476T>A
11 papers
NM_018105.3
p.K158delFs
c.474delT
2 papers
NM_018105.3
p.R169*
c.505C>T
1 paper
NM_018105.3
p.Q168delFs
c.504delC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."