Varaico: Literature-Extracted Genetic Variants

Gene:THAP1

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
1–12 of 574 variants
27 papers
NM_018105.3
p.F81L
c.241T>C
25 papers
NM_018105.3
p.F81L
c.243T>G
25 papers
NM_018105.3
p.F81L
c.243T>A
24 papers
NM_018105.3
p.C54Y
c.161G>A
20 papers
NM_018105.3
p.K24Splc
c.71+9C>A
18 papers
NM_018105.3
p.R29Q
c.86G>A
17 papers
NM_018105.3
p.S21T
c.61T>A
16 papers
NM_018105.3
p.R13H
c.38G>A
16 papers
NM_018105.3
p.M143V
c.427A>G
14 papers
NM_018105.3
p.R29*
c.85C>T
14 papers
NM_018105.3
p.N136S
c.407A>G
14 papers
NM_018105.3
p.A166T
c.496G>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."