Varaico: Literature-Extracted Genetic Variants

Gene:RRP12
Variant:p.R1281Q

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.R1281Q
c.3842G>A
Surrounding Variants
1 paper
NM_015179.4
p.K1289T
c.3866A>C
2 papers
NM_015179.4
p.V1242M
c.3724G>A
1 paper
NM_015179.4
p.K1237*
c.3709A>T
1 paper
NM_015179.4
p.K1234E
c.3700A>G
1 paper
NM_015179.4
p.A1231V
c.3692C>T
1 paper
NM_015179.4
p.E1204K
c.3610G>A
1 paper
NM_015179.4
p.E1200D
c.3600G>T
1 paper
NM_015179.4
p.E1174K
c.3520G>A
1 paper
NM_015179.4
p.G1162V
c.3485G>T
1 paper
NM_015179.4
p.G1152R
c.3454G>C
2 papers
NM_015179.4
p.G1145S
c.3433G>A
1 paper
NM_015179.4
p.R1138Q
c.3413G>A
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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."