Varaico: Literature-Extracted Genetic Variants

Gene:MRPS12
Variant:p.R44Q

MRPS12

19 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

Ribosom_S12_S23aa 46–138UCSCRibosomal protein S12/S23

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S12

HGNC Previous Symbol

RPMS12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033362.4
p.R44Q
c.131G>A
Surrounding Variants
1 paper
NM_033362.4
p.R44G
c.130C>G
1 paper
NM_033362.4
p.P46delFs
c.136_137delCC
1 paper
NM_033362.4
p.R47Q
c.140G>A
1 paper
NM_033362.4
p.R38H
c.113G>A
2 papers
NM_033362.4
p.R38C
c.112C>T
1 paper
NM_033362.4
p.T52M
c.155C>T
1 paper
NM_033362.4
p.R55Q
c.164G>A
1 paper
NM_033362.4
p.P56L
c.167C>T
1 paper
NM_033362.4
p.A26V
c.77C>T
1 paper
NM_033362.4
p.R23W
c.67C>T
1 paper
NM_033362.4
p.T67S
c.199A>T
1 paper
NM_033362.4
p.T67S
c.200C>G
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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."