Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.A38T

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
2 papers
NM_018105.3
p.A38T
c.112G>A
Surrounding Variants
1 paper
NM_018105.3
p.A38S
c.112G>T
1 paper
NM_018105.3
p.A38P
c.112G>C
1 paper
NM_018105.3
p.A38fs
c.112_113fs
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.E37E
c.111G>A
1 paper
NM_018105.3
p.A38V
c.113C>T
1 paper
NM_018105.3
p.A38G
c.113C>G
1 paper
NM_018105.3
p.A38E
c.113C>A
2 papers
NM_018105.3
p.A38delFs
c.112delC
1 paper
NM_018105.3
p.E37V
c.110A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."