Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.F45S

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.F45S
c.134T>C
Surrounding Variants
1 paper
NM_018105.3
p.F45ins2
c.134_135ins6
11 papers
NM_018105.3
p.F45insFs
c.134_135ins5
1 paper
NM_018105.3
p.F45insFs
c.134_135ins5
1 paper
NM_018105.3
p.F45C
c.134T>G
1 paper
NM_018105.3
p.F45Y
c.134T>A
1 paper
NM_018105.3
p.E37_N44ins2
c.109_132dup24
1 paper
NM_018105.3
p.F45fs
c.133_134fs
1 paper
NM_018105.3
p.F45L
c.135T>G
1 paper
NM_018105.3
p.F45V
c.133T>G
1 paper
NM_018105.3
p.F45L
c.133T>C
2 papers
NM_018105.3
p.F45L
c.135T>A
1 paper
NM_018105.3
p.F45I
c.133T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."