Varaico: Literature-Extracted Genetic Variants

Gene:THAP1
Variant:p.K89R

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
9 papers
NM_018105.3
p.K89R
c.266A>G
Surrounding Variants
5 papers
NM_018105.3
p.K89K
c.267G>A
1 paper
NM_018105.3
p.H87Y
c.259C>T
7 papers
NM_018105.3
p.C83R
c.247T>C
25 papers
NM_018105.3
p.F81L
c.243T>G
25 papers
NM_018105.3
p.F81L
c.243T>A
1 paper
NM_018105.3
p.F81V
c.241T>G
27 papers
NM_018105.3
p.F81L
c.241T>C
11 papers
NM_018105.3
p.I80V
c.238A>G
5 papers
NM_018105.3
p.T79delFs
c.236delG
1 paper
NM_018105.3
p.T79Fs
c.236delinsTTFs
1 paper
NM_018105.3
p.T79fs
c.235_236fs
1 paper
NM_018105.3
p.P78A
c.232C>G
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