Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.K73T

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
4 papers
NM_018105.3
p.K73T
c.218A>C
Surrounding Variants
1 paper
NM_018105.3
p.L72fs
c.214_215fs
6 papers
NM_018105.3
p.L72R
c.215T>G
1 paper
NM_018105.3
p.L72fs
c.214_215fs
1 paper
NM_018105.3
p.L72L
c.214C>T
1 paper
NM_018105.3
p.L72insFs
c.214_215insA
2 papers
NM_018105.3
p.L71L
c.213A>G
6 papers
NM_018105.3
p.N75I
c.224A>T
1 paper
NM_018105.3
p.N75K
c.225T>G
1 paper
NM_018105.3
p.N75K
c.225T>A
1 paper
NM_018105.3
p.K70fs
c.208_209fs
1 paper
NM_018105.3
p.K70delFs
c.208_209delTT
9 papers
NM_018105.3
p.N69del1
c.205_206delGTT
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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."