Varaico: Literature-Extracted Genetic Variants

Gene:MRPL48

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
1–12 of 19 variants
3 papers
NM_016055.6
p.R201*
c.601C>T
1 paper
NM_016055.6
p.R25S
c.75G>C
1 paper
NM_016055.6
p.R25S
c.75G>T
1 paper
NM_016055.6
p.R25S
c.75G>T
1 paper
NM_016055.6
p.K74delFs
c.222delA
1 paper
NM_016055.6
p.D85Y
c.253G>T
1 paper
NM_016055.6
p.V90A
c.269T>C
1 paper
NM_016055.6
p.L91*
c.272T>A
1 paper
NM_016055.6
p.V121I
c.361G>A
1 paper
NM_016055.6
p.A126_P128delFs
c.378_382del5
1 paper
NM_016055.6
p.T131fs
c.391_392fs
1 paper
NM_016055.6
p.S142N
c.425G>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."