Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.E56insFs

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.E56insFs
c.166_167insA
Surrounding Variants
1 paper
NM_018105.3
p.E56Q
c.166G>C
4 papers
NM_018105.3
p.E56G
c.167A>G
2 papers
NM_018105.3
p.S55L
c.164C>T
1 paper
NM_018105.3
p.C54delFs
c.162delA
1 paper
NM_018105.3
p.S55A
c.163T>G
7 papers
NM_018105.3
p.H57N
c.169C>A
4 papers
NM_018105.3
p.C54F
c.161G>T
2 papers
NM_018105.3
p.C54S
c.161G>C
24 papers
NM_018105.3
p.C54Y
c.161G>A
1 paper
NM_018105.3
p.C54S
c.160T>A
1 paper
NM_018105.3
p.F58fs
c.172_173fs
3 papers
NM_018105.3
p.F58S
c.173T>C
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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."