Varaico: Literature-Extracted Genetic Variants

Gene:THAP12
Variant:p.R30K

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.R30K
c.89G>A
Surrounding Variants
1 paper
NM_004705.4
p.Q32fs
c.94_95fs
1 paper
NM_004705.4
p.T70_S71Splc
c.210+886C>T
1 paper
NM_004705.4
p.S71ins5
c.211_212ins15
2 papers
NM_004705.4
p.R78Q
c.233G>A
1 paper
NM_004705.4
p.A81V
c.242C>T
1 paper
NM_004705.4
p.E105*
c.313G>T
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