Varaico: Literature-Extracted Genetic Variants

Gene:RRP12
Variant:p.R997R

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.R997R
c.2991G>C
Surrounding Variants
1 paper
NM_015179.4
p.R997R
c.2991G>A
1 paper
NM_015179.4
p.R1013H
c.3038G>A
1 paper
NM_015179.4
p.K1014R
c.3041A>G
1 paper
NM_015179.4
p.E1026K
c.3076G>A
1 paper
NM_015179.4
p.E1058Q
c.3172G>C
1 paper
NM_015179.4
p.E1058K
c.3172G>A
1 paper
NM_015179.4
p.E1060A
c.3179A>C
1 paper
NM_015179.4
p.E1061Q
c.3181G>C
1 paper
NM_015179.4
p.E1064del1
c.3190_3192delCTC
1 paper
NM_015179.4
p.G1070D
c.3209G>A
1 paper
NM_015179.4
p.L1077S
c.3230T>C
1 paper
NM_015179.4
p.E1083K
c.3247G>A
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