Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.L93del1

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.L93del1
c.277_279delAAG
Surrounding Variants
1 paper
NM_199003.2
p.W29*
c.86G>A
1 paper
NM_018105.3
p.E95insFs
c.283_284insT
1 paper
NM_018105.3
p.E95insFs
c.283_284insA
1 paper
NM_018105.3
p.E95insFs
c.284_285insT
1 paper
NM_018105.3
p.E95del1
c.283_285delCTC
1 paper
NM_018105.3
p.P96P
c.288A>G
8 papers
NM_018105.3
p.Q97*
c.289C>T
2 papers
NM_018105.3
p.K90_E91delFs
c.270_273del4
1 paper
NM_018105.3
p.E91G
c.272A>G
1 paper
NM_018105.3
p.E91K
c.271G>A
3 papers
NM_018105.3
p.E91fs
c.271_272fs
2 papers
NM_018105.3
p.Q99*
c.295C>T
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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."