Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.V40A

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.V40A
c.119T>C
Surrounding Variants
1 paper
NM_018105.3
p.V40G
c.119T>G
1 paper
NM_018105.3
p.V40D
c.119T>A
1 paper
NM_018105.3
p.V40F
c.118G>T
1 paper
NM_018105.3
p.V40L
c.118G>C
1 paper
NM_018105.3
p.V40I
c.118G>A
1 paper
NM_018105.3
p.R41G
c.121A>G
1 paper
NM_018105.3
p.R41I
c.122G>T
1 paper
NM_018105.3
p.R41T
c.122G>C
2 papers
NM_018105.3
p.R41K
c.122G>A
1 paper
NM_018105.3
p.A39V
c.116C>T
1 paper
NM_018105.3
p.A39G
c.116C>G
1 paper
NM_018105.3
p.A39D
c.116C>A
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