Varaico: Literature-Extracted Genetic Variants

Gene:MRPS34

MRPS34

53 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

MRP-S34aa 61–187UCSCMitochondrial 28S ribosomal protein S34

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S34

HGNC Alias Symbols

MRP-S12; MGC2616; mS34

Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
11 papers
NM_023936.2
p.Q32*
c.94C>T
7 papers
NM_023936.2
p.Q107_N108Splc
c.322-10G>A
5 papers
NM_023936.2
p.Q107_N108Splc
c.321+1G>T
3 papers
NM_023936.2
p.E13K
c.37G>A
3 papers
NM_023936.2
p.N108fs
c.322_323fs
2 papers
NM_023936.2
p.L68P
c.203T>C
2 papers
NM_023936.2
p.G75R
c.223G>C
2 papers
NM_023936.2
p.Q107fs
c.319_320fs
1 paper
NM_023936.2
p.K4Q
c.10A>C
1 paper
NM_023936.2
p.L14V
c.40C>G
1 paper
NM_023936.2
p.L14P
c.41T>C
1 paper
NM_023936.2
p.A15P
c.43G>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."