Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.L123fs

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.L123fs
c.367_368fs
Surrounding Variants
1 paper
NM_018105.3
p.L123F
c.367C>T
1 paper
NM_018105.3
p.P121_P122insFs
c.363_366dup4
1 paper
NM_018105.3
p.L123fs
c.367_368fs
7 papers
NM_018105.3
p.Q124*
c.370C>T
3 papers
NM_018105.3
p.P126fs
c.376_377fs
1 paper
NM_018105.3
p.D113_P126delFs
c.337_376del40
1 paper
NM_018105.3
p.P126fs
c.376_377fs
2 papers
NM_018105.3
p.L119P
c.356T>C
1 paper
NM_018105.3
p.V127F
c.379G>T
5 papers
NM_018105.3
p.P126delFs
c.377_378delAG
1 paper
NM_018105.3
p.V127D
c.380T>A
1 paper
NM_018105.3
p.I116delFs
c.348delA
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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."