Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.E37E

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.E37E
c.111G>A
Surrounding Variants
1 paper
NM_018105.3
p.E37D
c.111G>T
1 paper
NM_018105.3
p.E37fs
c.109_110fs
1 paper
NM_018105.3
p.E37D
c.111G>C
1 paper
NM_018105.3
p.A38S
c.112G>T
1 paper
NM_018105.3
p.A38P
c.112G>C
2 papers
NM_018105.3
p.A38T
c.112G>A
1 paper
NM_018105.3
p.E37V
c.110A>T
1 paper
NM_018105.3
p.E37G
c.110A>G
2 papers
NM_018105.3
p.E37A
c.110A>C
1 paper
NM_018105.3
p.E37insFs
c.109dupG
1 paper
NM_018105.3
p.A38fs
c.112_113fs
1 paper
NM_018105.3
p.E37Q
c.109G>C
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