Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.K49T

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.K49T
c.146A>C
Surrounding Variants
1 paper
NM_018105.3
p.K49M
c.146A>T
1 paper
NM_018105.3
p.K49R
c.146A>G
1 paper
NM_018105.3
p.K49N
c.147G>T
1 paper
NM_018105.3
p.K49N
c.147G>C
1 paper
NM_018105.3
p.K49E
c.145A>G
1 paper
NM_018105.3
p.K49Q
c.145A>C
1 paper
NM_018105.3
p.Y50D
c.148T>G
1 paper
NM_018105.3
p.Y50H
c.148T>C
1 paper
NM_018105.3
p.Y50N
c.148T>A
1 paper
NM_018105.3
p.T48I
c.143C>T
1 paper
NM_018105.3
p.T48S
c.143C>G
1 paper
NM_018105.3
p.T48N
c.143C>A
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