Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.E66fs

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
3 papers
NM_018105.3
p.E66fs
c.196_197fs
Surrounding Variants
1 paper
NM_018105.3
p.E66_C67insFs
c.198_199ins7
5 papers
NM_018105.3
p.E66delFs
c.197_198delCT
1 paper
NM_018105.3
p.K64K
c.192G>A
2 papers
NM_018105.3
p.F63_E66del4
c.187_197del12
1 paper
NM_018105.3
p.K70fs
c.208_209fs
1 paper
NM_018105.3
p.K70*
c.208A>T
4 papers
NM_018105.3
p.K70E
c.208A>G
1 paper
NM_018105.3
p.N69_K70delFs
c.207_208delTG
1 paper
NM_018105.3
p.K70fs
c.208_209fs
1 paper
NM_018105.3
p.K70delFs
c.208_209delTT
9 papers
NM_018105.3
p.N69del1
c.205_206delGTT
1 paper
NM_018105.3
p.D61Y
c.181G>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."