Varaico: Literature-Extracted Genetic Variants

Gene:RRP12
Variant:p.S46*

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.S46*
c.137C>A
Surrounding Variants
1 paper
NM_015179.4
p.P45R
c.134C>G
1 paper
NM_015179.4
p.R34fs
c.100_101fs
1 paper
NM_015179.4
p.R34insFs
c.100_101ins7
1 paper
NM_015179.4
p.R34insFs
c.100_101ins10
1 paper
NM_015179.4
p.C31F
c.92G>T
1 paper
NM_015179.4
p.L15S
c.44T>C
1 paper
NM_015179.4
p.A13V
c.38C>T
1 paper
NM_015179.4
p.P8L
c.23C>T
1 paper
NM_015179.4
p.V56M
c.166G>A
1 paper
NM_015179.4
p.L58S
c.173T>C
1 paper
NM_015179.4
p.R68S
c.202C>A
1 paper
NM_015179.4
p.L69L
c.207G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."