Varaico: Literature-Extracted Genetic Variants

Gene:RRP12
Variant:p.G628R

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.G628R
c.1882G>C
Surrounding Variants
1 paper
NM_015179.4
p.G628R
c.1882G>A
1 paper
NM_015179.4
p.V661M
c.1981G>A
1 paper
NM_015179.4
p.L668F
c.2002C>T
1 paper
NM_015179.4
p.L618P
c.1853T>C
1 paper
NM_015179.4
p.M601L
c.1801A>T
1 paper
NM_015179.4
p.D678N
c.2032G>A
1 paper
NM_015179.4
p.R684C
c.2050C>T
2 papers
NM_015179.4
p.R684H
c.2051G>A
1 paper
NM_015179.4
p.Y720D
c.2158T>G
1 paper
NM_015179.4
p.V758M
c.2272G>A
1 paper
NM_015179.4
p.K790*
c.2368A>T
1 paper
NM_015179.4
p.A800S
c.2398G>T
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."