Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.S51R

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
6 papers
NM_018105.3
p.S51R
c.151A>C
Surrounding Variants
1 paper
NM_018105.3
p.S51C
c.151A>T
4 papers
NM_018105.3
p.S51G
c.151A>G
1 paper
NM_018105.3
p.Y50_S51insFs
c.150_151insA
9 papers
NM_018105.3
p.Y50*
c.150T>G
9 papers
NM_018105.3
p.Y50*
c.150T>A
1 paper
NM_018105.3
p.S51I
c.152G>T
1 paper
NM_018105.3
p.S51T
c.152G>C
1 paper
NM_018105.3
p.S51N
c.152G>A
6 papers
NM_018105.3
p.S51R
c.153C>G
6 papers
NM_018105.3
p.S51R
c.153C>A
1 paper
NM_018105.3
p.Y50F
c.149A>T
4 papers
NM_018105.3
p.Y50C
c.149A>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."