Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.N75I

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
6 papers
NM_018105.3
p.N75I
c.224A>T
Surrounding Variants
1 paper
NM_018105.3
p.N75K
c.225T>G
1 paper
NM_018105.3
p.N75K
c.225T>A
1 paper
NM_018105.3
p.V77A
c.230T>C
4 papers
NM_018105.3
p.K73T
c.218A>C
1 paper
NM_018105.3
p.L72fs
c.214_215fs
1 paper
NM_018105.3
p.P78A
c.232C>G
6 papers
NM_018105.3
p.L72R
c.215T>G
1 paper
NM_018105.3
p.L72fs
c.214_215fs
1 paper
NM_018105.3
p.L72L
c.214C>T
1 paper
NM_018105.3
p.L72insFs
c.214_215insA
2 papers
NM_018105.3
p.L71L
c.213A>G
1 paper
NM_018105.3
p.T79fs
c.235_236fs
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