Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.Q3H

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.Q3H
c.9G>T
Surrounding Variants
7 papers
NM_018105.3
p.Q3H
c.9G>C
1 paper
NM_018105.3
p.S4A
c.10T>G
1 paper
NM_018105.3
p.Q3L
c.8A>T
1 paper
NM_018105.3
p.Q3R
c.8A>G
1 paper
NM_018105.3
p.Q3P
c.8A>C
9 papers
NM_018105.3
p.Q3*
c.7C>T
3 papers
NM_018105.3
p.S4F
c.11C>T
1 paper
NM_018105.3
p.Q3E
c.7C>G
3 papers
NM_018105.3
p.S4Y
c.11C>A
1 paper
NM_018105.3
p.Q3K
c.7C>A
1 paper
NM_018105.3
p.V2fs
c.4_5fs
1 paper
NM_018105.3
p.V2_Q3insFs
c.6_7insA
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."