Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.S6A

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.S6A
c.16T>G
Surrounding Variants
1 paper
NM_018105.3
p.S6_A7insA
c.16_20ins3
6 papers
NM_018105.3
p.S6P
c.16T>C
8 papers
NM_018105.3
p.S6F
c.17C>T
2 papers
NM_018105.3
p.C5C
c.15C>T
3 papers
NM_018105.3
p.C5W
c.15C>G
1 paper
NM_018105.3
p.S6Y
c.17C>A
3 papers
NM_018105.3
p.C5Y
c.14G>A
1 paper
NM_018105.3
p.C5G
c.13T>G
1 paper
NM_018105.3
p.C5R
c.13T>C
1 paper
NM_018105.3
p.A7S
c.19G>T
1 paper
NM_018105.3
p.A7P
c.19G>C
4 papers
NM_018105.3
p.A7T
c.19G>A
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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."