Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.C10delFs

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.C10delFs
c.30delG
Surrounding Variants
1 paper
NM_018105.3
p.K11E
c.31A>G
1 paper
NM_018105.3
p.K11Q
c.31A>C
1 paper
NM_018105.3
p.C10W
c.30C>G
1 paper
NM_018105.3
p.K11M
c.32A>T
1 paper
NM_018105.3
p.K11R
c.32A>G
1 paper
NM_018105.3
p.K11T
c.32A>C
2 papers
NM_018105.3
p.C10F
c.29G>T
1 paper
NM_018105.3
p.K11N
c.33G>T
1 paper
NM_018105.3
p.K11N
c.33G>C
1 paper
NM_018105.3
p.C10S
c.29G>C
1 paper
NM_018105.3
p.C10Y
c.29G>A
1 paper
NM_018105.3
p.C10delFs
c.28delA
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