Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.D204N

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
1 paper
NM_018105.3
p.D204N
c.610G>A
Surrounding Variants
2 papers
NM_018105.3
p.Y205N
c.613T>A
2 papers
NM_018105.3
p.G197_Y198del2
c.589_593del6
1 paper
NM_018105.3
p.E207_I208del2
c.619_623del6
1 paper
NM_018105.3
p.Y198_V199ins7
c.592_596ins21
1 paper
NM_018105.3
p.Y198insFs
c.592_593insA
1 paper
NM_018105.3
p.E210K
c.628G>A
1 paper
NM_018105.3
p.G197_Y198insFs
c.591_592insA
1 paper
NM_018105.3
p.E210V
c.629A>T
1 paper
NM_018105.3
p.G197D
c.590G>A
5 papers
NM_018105.3
p.E207_V209del3
c.619_626del9
3 papers
NM_018105.3
p.A213T
c.637G>A
1 paper
NM_018105.3
p.S194A
c.580T>G
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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."