Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.H23L

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
2 papers
NM_018105.3
p.H23L
c.68A>T
Surrounding Variants
1 paper
NM_018105.3
p.H23R
c.68A>G
10 papers
NM_018105.3
p.H23P
c.68A>C
4 papers
NM_018105.3
p.H23Y
c.67C>T
1 paper
NM_018105.3
p.H23Q
c.69C>G
1 paper
NM_018105.3
p.H23D
c.67C>G
1 paper
NM_018105.3
p.H23Q
c.69C>A
1 paper
NM_018105.3
p.H23N
c.67C>A
3 papers
NM_018105.3
p.S21_F22delFs
c.63_66del4
1 paper
NM_018105.3
p.F22L
c.66C>G
1 paper
NM_018105.3
p.F22L
c.66C>A
2 papers
NM_018105.3
p.K24E
c.70A>G
1 paper
NM_018105.3
p.K24fs
c.70_71fs
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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."