Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.K18T

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.K18T
c.53A>C
Surrounding Variants
1 paper
NM_018105.3
p.K18M
c.53A>T
1 paper
NM_018105.3
p.K18R
c.53A>G
1 paper
NM_018105.3
p.K18N
c.54G>T
1 paper
NM_018105.3
p.K18N
c.54G>C
1 paper
NM_018105.3
p.K18E
c.52A>G
1 paper
NM_018105.3
p.K18Q
c.52A>C
1 paper
NM_018105.3
p.P19S
c.55C>T
3 papers
NM_018105.3
p.D17E
c.51C>G
1 paper
NM_018105.3
p.P19A
c.55C>G
3 papers
NM_018105.3
p.D17E
c.51C>A
1 paper
NM_018105.3
p.P19T
c.55C>A
1 paper
NM_018105.3
p.P19L
c.56C>T
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