Varaico: Literature-Extracted Genetic Variants

Gene:MRPL23
Variant:p.E47Splc

MRPL23

32 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_L23aa 30–104UCSCRibosomal protein L23
Ribosomal_L23aa 30–107UCSCRibosomal protein L23

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L23

HGNC Previous Symbol

RPL23L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021134.4
p.E47Splc
c.141-8G>T
Surrounding Variants
1 paper
NM_021134.4
p.M48_T49Fs
c.143_147delinsGTGGAACGCCCGGCCTCAGTGAGCGAGCGAGCGCGCAGAGAGGGAGTGGCCAFs
1 paper
NM_021134.4
p.V97M
c.289G>A
1 paper
NM_021134.4
p.R43W
c.127C>T
2 papers
NM_021134.4
p.Q41L
c.122A>T
1 paper
NM_021134.4
p.E37D
c.111G>C
1 paper
NM_021134.4
p.E37D
c.111G>T
1 paper
NM_021134.4
p.G32S
c.94G>A
1 paper
NM_021134.4
p.R30W
c.88C>T
1 paper
NM_021134.4
p.T22Fs
c.66delinsCGFs
1 paper
NM_021134.4
p.R21delFs
c.62delG
1 paper
NM_021134.4
p.R18W
c.52C>T
1 paper
NM_021134.4
p.R11Q
c.32G>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."