Varaico: Literature-Extracted Genetic Variants

Gene:RRP12
Variant:p.T234N

RRP12

80 papers

Pfam Domains

HEAT_RRP12_Naa 95–357UCSCRRP12-like, N-terminal HEAT repeats
RRP12_HEATaa 425–700UCSCRibosomal RNA-processing protein 12, HEAT repeats

Gene Aliases

HGNC Name

ribosomal RNA processing 12 homolog

HGNC Previous Symbol

KIAA0690

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015179.4
p.T234N
c.701C>A
Surrounding Variants
1 paper
NM_015179.4
p.V237V
c.711G>C
1 paper
NM_015179.4
p.G240E
c.719G>A
1 paper
NM_015179.4
p.T219I
c.656C>T
1 paper
NM_015179.4
p.A193T
c.577G>A
1 paper
NM_015179.4
p.K192R
c.575A>G
1 paper
NM_015179.4
p.S191A
c.571T>G
1 paper
NM_015179.4
p.D189N
c.565G>A
1 paper
NM_015179.4
p.V178I
c.532G>A
1 paper
NM_015179.4
p.A255P
c.763G>C
1 paper
NM_015179.4
p.G266A
c.797G>C
1 paper
NM_015179.4
p.G321D
c.962G>A
1 paper
NM_015179.4
p.L336*
c.1007T>A
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