Varaico: Literature-Extracted Genetic Variants

Gene:THAP12
Variant:p.E158Q

THAP12

43 papers

Pfam Domains

THAPaa 5–86UCSCTHAP domain
DUF4371aa 117–341UCSCZMYM1/FAM200, RNase-like domain
Dimer_Tnp_hATaa 634–729UCSChAT family C-terminal dimerisation region

Gene Aliases

HGNC Name

THAP domain containing 12

HGNC Previous Symbol

PRKRIR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004705.4
p.E158Q
c.472G>C
Surrounding Variants
1 paper
NM_004705.4
p.E159E
c.477G>A
1 paper
NM_004705.4
p.S141S
c.423C>T
1 paper
NM_004705.4
p.R208Q
c.623G>A
1 paper
NM_004705.4
p.S211_G212ins15
c.631_635ins45
1 paper
NM_004705.4
p.C230F
c.689G>T
1 paper
NM_004705.4
p.D266Y
c.796G>T
2 papers
NM_004705.4
p.P277T
c.829C>A
1 paper
NM_004705.4
p.D302N
c.904G>A
1 paper
NM_004705.4
p.S338F
c.1013C>T
1 paper
NM_004705.4
p.I355V
c.1063A>G
1 paper
NM_004705.4
p.D402N
c.1204G>A
5 papers
NM_004705.4
p.R558S
c.1674A>T
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