Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.N12S

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.N12S
c.35A>G
Surrounding Variants
1 paper
NM_018105.3
p.N12I
c.35A>T
1 paper
NM_018105.3
p.N12T
c.35A>C
10 papers
NM_018105.3
p.N12K
c.36C>G
10 papers
NM_018105.3
p.N12K
c.36C>A
1 paper
NM_018105.3
p.N12Y
c.34A>T
1 paper
NM_018105.3
p.N12D
c.34A>G
1 paper
NM_018105.3
p.N12H
c.34A>C
3 papers
NM_018105.3
p.A7_K11delFs
c.20_33del14
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.R13C
c.37C>T
2 papers
NM_018105.3
p.R13G
c.37C>G
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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."