Varaico: Literature-Extracted Genetic Variants

Gene:RRP12
Variant:p.T103S

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.T103S
c.307A>T
Surrounding Variants
1 paper
NM_015179.4
p.V105I
c.313G>A
1 paper
NM_015179.4
p.S100_D101ins7
c.298_302ins21
1 paper
NM_015179.4
p.S100_D101ins10
c.298_302ins30
1 paper
NM_015179.4
p.V110L
c.328G>T
1 paper
NM_015179.4
p.V110L
c.328G>C
1 paper
NM_015179.4
p.A120T
c.358G>A
1 paper
NM_015179.4
p.E123V
c.368A>T
1 paper
NM_015179.4
p.T77M
c.230C>T
1 paper
NM_015179.4
p.P75R
c.224C>G
1 paper
NM_015179.4
p.A74V
c.221C>T
1 paper
NM_015179.4
p.E73K
c.217G>A
1 paper
NM_015179.4
p.L69L
c.207G>A
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