Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.D17Y

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.D17Y
c.49G>T
Surrounding Variants
1 paper
NM_018105.3
p.D17H
c.49G>C
1 paper
NM_018105.3
p.D17N
c.49G>A
1 paper
NM_018105.3
p.K16N
c.48G>T
1 paper
NM_018105.3
p.K16N
c.48G>C
1 paper
NM_018105.3
p.D17V
c.50A>T
10 papers
NM_018105.3
p.D17G
c.50A>G
1 paper
NM_018105.3
p.D17A
c.50A>C
3 papers
NM_018105.3
p.D17E
c.51C>G
3 papers
NM_018105.3
p.D17E
c.51C>A
1 paper
NM_018105.3
p.K16M
c.47A>T
2 papers
NM_018105.3
p.K16R
c.47A>G
1 paper
NM_018105.3
p.K16T
c.47A>C
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