Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.S31R

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.S31R
c.93T>A
Surrounding Variants
1 paper
NM_018105.3
p.S31R
c.93T>G
1 paper
NM_018105.3
p.S31I
c.92G>T
1 paper
NM_018105.3
p.S31T
c.92G>C
2 papers
NM_018105.3
p.S31N
c.92G>A
3 papers
NM_018105.3
p.L32F
c.94C>T
1 paper
NM_018105.3
p.L32V
c.94C>G
1 paper
NM_018105.3
p.L32I
c.94C>A
2 papers
NM_018105.3
p.L32R
c.95T>G
1 paper
NM_018105.3
p.L32P
c.95T>C
8 papers
NM_018105.3
p.L32H
c.95T>A
1 paper
NM_018105.3
p.S31C
c.91A>T
1 paper
NM_018105.3
p.S31G
c.91A>G
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