Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.H135Y

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
2 papers
NM_018105.3
p.H135Y
c.403C>T
Surrounding Variants
1 paper
NM_018105.3
p.D134insFs
c.401dupA
1 paper
NM_018105.3
p.D134insFs
c.402dupC
1 paper
NM_018105.3
p.H135Q
c.405C>G
11 papers
NM_018105.3
p.D134_H135ins5
c.400_404ins15
1 paper
NM_018105.3
p.D134_H135ins6
c.400_404ins18
14 papers
NM_018105.3
p.N136S
c.407A>G
1 paper
NM_018105.3
p.F132del1
c.394_395delGAA
12 papers
NM_018105.3
p.N136K
c.408C>G
11 papers
NM_018105.3
p.N136K
c.408C>A
1 paper
NM_018105.3
p.Y137D
c.409T>G
10 papers
NM_018105.3
p.Y137C
c.410A>G
8 papers
NM_018105.3
p.F132S
c.395T>C
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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."