Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.F25L

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.F25L
c.75T>G
Surrounding Variants
1 paper
NM_018105.3
p.F25L
c.75T>A
1 paper
NM_018105.3
p.F25C
c.74T>G
1 paper
NM_018105.3
p.F25S
c.74T>C
1 paper
NM_018105.3
p.F25Y
c.74T>A
1 paper
NM_018105.3
p.P26S
c.76C>T
2 papers
NM_018105.3
p.P26A
c.76C>G
1 paper
NM_018105.3
p.P26T
c.76C>A
1 paper
NM_018105.3
p.F25V
c.73T>G
1 paper
NM_018105.3
p.F25L
c.73T>C
1 paper
NM_018105.3
p.F25I
c.73T>A
1 paper
NM_018105.3
p.F25fs
c.73_74fs
7 papers
NM_018105.3
p.P26L
c.77C>T
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