Varaico: Literature-Extracted Genetic Variants

Gene:RRP12
Variant:p.D1085A

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.D1085A
c.3254A>C
Surrounding Variants
1 paper
NM_015179.4
p.D1085G
c.3254A>G
2 papers
NM_015179.4
p.E1084K
c.3250G>A
1 paper
NM_015179.4
p.E1083K
c.3247G>A
1 paper
NM_015179.4
p.S1092N
c.3275G>A
1 paper
NM_015179.4
p.L1077S
c.3230T>C
1 paper
NM_015179.4
p.R1098R
c.3294G>T
1 paper
NM_015179.4
p.R1098R
c.3294G>C
1 paper
NM_015179.4
p.G1114V
c.3341G>T
1 paper
NM_015179.4
p.K1124R
c.3371A>G
1 paper
NM_015179.4
p.G1070D
c.3209G>A
1 paper
NM_015179.4
p.E1064del1
c.3190_3192delCTC
1 paper
NM_015179.4
p.E1061Q
c.3181G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."