Varaico: Literature-Extracted Genetic Variants

Gene:MRPL48
Variant:p.R183*

MRPL48

11 papers

RefSeq Summary

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit a...

Pfam Domains

Ribosomal_S10aa 92–187UCSCRibosomal protein S10p/S20e
Ribosomal_S10aa 92–187UCSCRibosomal protein S10p/S20e

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L48

HGNC Alias Symbols

CGI-118; mL48

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016055.6
p.R183*
c.547A>T
Surrounding Variants
1 paper
NM_016055.6
p.R183K
c.548G>A
1 paper
NM_016055.6
p.V182I
c.544G>A
1 paper
NM_016055.6
p.G181V
c.542G>T
1 paper
NM_016055.6
p.E172K
c.514G>A
3 papers
NM_016055.6
p.R201*
c.601C>T
1 paper
NM_016055.6
p.R201Q
c.602G>A
1 paper
NM_016055.6
p.R155Q
c.464G>A
1 paper
NM_016055.6
p.S142N
c.425G>A
1 paper
NM_016055.6
p.T131fs
c.391_392fs
1 paper
NM_016055.6
p.A126_P128delFs
c.378_382del5
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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."