Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.K43R

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.K43R
c.128A>G
Surrounding Variants
1 paper
NM_018105.3
p.K43I
c.128A>T
1 paper
NM_018105.3
p.K43T
c.128A>C
1 paper
NM_018105.3
p.K43E
c.127A>G
1 paper
NM_018105.3
p.K43Q
c.127A>C
1 paper
NM_018105.3
p.N44Y
c.130A>T
1 paper
NM_018105.3
p.R42S
c.126A>T
1 paper
NM_018105.3
p.N44D
c.130A>G
1 paper
NM_018105.3
p.N44H
c.130A>C
1 paper
NM_018105.3
p.R42S
c.126A>C
1 paper
NM_018105.3
p.R42I
c.125G>T
1 paper
NM_018105.3
p.R42T
c.125G>C
1 paper
NM_018105.3
p.R42K
c.125G>A
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