Varaico: Literature-Extracted Genetic Variants

Gene:MRPS12
Variant:p.G113D

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.G113D
c.338G>A
Surrounding Variants
1 paper
NM_033362.4
p.T115A
c.343A>G
2 papers
NM_033362.4
p.Q116K
c.346C>A
1 paper
NM_033362.4
p.V125I
c.373G>A
1 paper
NM_033362.4
p.Q136_K137del2
c.406_410del6
1 paper
NM_033362.4
p.Q136_K137del1
c.407_409delAGA
4 papers
NM_033362.4
p.L85H
c.254T>A
1 paper
NM_033362.4
p.R84W
c.250C>T
2 papers
NM_033362.4
p.K71T
c.212A>C
1 paper
NM_033362.4
p.R68L
c.203G>T
1 paper
NM_033362.4
p.R68C
c.202C>T
1 paper
NM_033362.4
p.T67S
c.200C>G
1 paper
NM_033362.4
p.T67S
c.199A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."