Varaico: Literature-Extracted Genetic Variants

Gene:RRP15

RRP15

37 papers

RefSeq Summary

This gene encodes a protein that co-purifies with human nucleoli. A similar protein in budding yeast is a component of pre-60S ribosomal particles, and is required for the early maturation steps of th...

Pfam Domains

Rrp15paa 92–215UCSCRrp15p

Gene Aliases

HGNC Name

ribosomal RNA processing 15 homolog

HGNC Previous Symbol

KIAA0507

Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
5 papers
NM_016052.4
p.K149N
c.447G>C
5 papers
NM_016052.4
p.K149N
c.447G>T
2 papers
NM_016052.4
p.P6L
c.17C>T
2 papers
NM_016052.4
p.K156E
c.466A>G
2 papers
NM_016052.4
p.S272fs
c.814_815fs
1 paper
NM_016052.4
p.A2P
c.4G>C
1 paper
NM_016052.4
p.A4S
c.10G>T
1 paper
NM_016052.4
p.A5S
c.13G>T
1 paper
NM_016052.4
p.E14K
c.40G>A
1 paper
NM_016052.4
p.K23del1
c.67_68delAAG
1 paper
NM_016052.4
p.K22R
c.65A>G
1 paper
NM_016052.4
p.M26T
c.77T>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."