Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.K188E

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.K188E
c.562A>G
Surrounding Variants
8 papers
NM_018105.3
p.Q187K
c.559C>A
1 paper
NM_018105.3
p.K190*
c.568A>T
2 papers
NM_018105.3
p.K190delFs
c.570delT
3 papers
NM_018105.3
p.D191fs
c.571_572fs
8 papers
NM_018105.3
p.D192N
c.574G>A
1 paper
NM_018105.3
p.V193I
c.577G>A
1 paper
NM_018105.3
p.E182delFs
c.545delT
1 paper
NM_018105.3
p.S194A
c.580T>G
2 papers
NM_018105.3
p.S194P
c.580T>C
1 paper
NM_018105.3
p.E182fs
c.544_545fs
2 papers
NM_018105.3
p.K181*
c.541A>T
2 papers
NM_018105.3
p.L180*
c.539T>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."