Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.P47R

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.P47R
c.140C>G
Surrounding Variants
1 paper
NM_018105.3
p.P47L
c.140C>T
1 paper
NM_018105.3
p.P47H
c.140C>A
13 papers
NM_018105.3
p.K46_P47del1
c.137_139delGTT
3 papers
NM_018105.3
p.P47S
c.139C>T
3 papers
NM_018105.3
p.P47A
c.139C>G
2 papers
NM_018105.3
p.P47T
c.139C>A
1 paper
NM_018105.3
p.K46delFs
c.137delT
3 papers
NM_018105.3
p.F45_P47Fs
c.135_139delinsGGGTTTAFs
1 paper
NM_018105.3
p.T48S
c.142A>T
1 paper
NM_018105.3
p.K46N
c.138A>T
2 papers
NM_018105.3
p.T48A
c.142A>G
1 paper
NM_018105.3
p.T48P
c.142A>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."