Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.M143V

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.M143V
c.427A>G
Surrounding Variants
2 papers
NM_018105.3
p.T142A
c.424A>G
2 papers
NM_018105.3
p.D141N
c.421G>A
2 papers
NM_018105.3
p.Q145*
c.433C>T
1 paper
NM_018105.3
p.E140*
c.418G>T
2 papers
NM_018105.3
p.Y137_V139del3
c.409_416del9
2 papers
NM_018105.3
p.R146fs
c.436_437fs
1 paper
NM_018105.3
p.R146Q
c.437G>A
2 papers
NM_018105.3
p.R146fs
c.436_437fs
1 paper
NM_018105.3
p.V139L
c.415G>C
1 paper
NM_018105.3
p.T138delFs
c.413delG
1 paper
NM_018105.3
p.K147K
c.441A>G
1 paper
NM_018105.3
p.T138fs
c.412_413fs
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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."