Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.R172insFs

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
3 papers
NM_018105.3
p.R172insFs
c.514dupA
Surrounding Variants
1 paper
NM_018105.3
p.R172fs
c.514_515fs
1 paper
NM_018105.3
p.R172fs
c.514_515fs
4 papers
NM_018105.3
p.E174G
c.521A>G
12 papers
NM_018105.3
p.C170R
c.508T>C
1 paper
NM_018105.3
p.R175W
c.523C>T
12 papers
NM_018105.3
p.R169Q
c.506G>A
2 papers
NM_018105.3
p.R169*
c.505C>T
1 paper
NM_018105.3
p.Q168delFs
c.504delC
4 papers
NM_018105.3
p.L177P
c.530T>C
3 papers
NM_018105.3
p.Q167*
c.499C>T
1 paper
NM_018105.3
p.A166V
c.497C>T
1 paper
NM_018105.3
p.A166_Q167insA
c.496_500ins3
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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."