Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.R13H

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
16 papers
NM_018105.3
p.R13H
c.38G>A
Surrounding Variants
1 paper
NM_018105.3
p.R13L
c.38G>T
1 paper
NM_018105.3
p.R13P
c.38G>C
1 paper
NM_018105.3
p.R13R
c.39C>T
1 paper
NM_018105.3
p.R13C
c.37C>T
2 papers
NM_018105.3
p.R13G
c.37C>G
1 paper
NM_018105.3
p.R13insFs
c.37_38insA
1 paper
NM_018105.3
p.R13S
c.37C>A
1 paper
NM_018105.3
p.Y14D
c.40T>G
3 papers
NM_018105.3
p.Y14H
c.40T>C
1 paper
NM_018105.3
p.Y14N
c.40T>A
10 papers
NM_018105.3
p.N12K
c.36C>G
10 papers
NM_018105.3
p.N12K
c.36C>A
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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."