Varaico: Literature-Extracted Genetic Variants

Gene:THAP12
Variant:p.R558S

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
5 papers
NM_004705.4
p.R558S
c.1674A>T
Surrounding Variants
5 papers
NM_004705.4
p.R558S
c.1674A>C
1 paper
NM_004705.4
p.A559S
c.1675G>T
1 paper
NM_004705.4
p.N563S
c.1688A>G
1 paper
NM_004705.4
p.S610A
c.1828T>G
1 paper
NM_004705.4
p.T619M
c.1856C>T
1 paper
NM_004705.4
p.R646G
c.1936A>G
1 paper
NM_004705.4
p.R652fs
c.1954_1955fs
1 paper
NM_004705.4
p.R652delFs
c.1954_1955delCT
1 paper
NM_004705.4
p.P675fs
c.2023_2024fs
1 paper
NM_004705.4
p.P675L
c.2024C>T
2 papers
NM_004705.4
p.R696Q
c.2087G>A
1 paper
NM_004705.4
p.D402N
c.1204G>A
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