Varaico: Literature-Extracted Genetic Variants

Gene:MRPS2

MRPS2

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_S2aa 84–185UCSCRibosomal protein S2
Ribosomal_S2aa 184–260UCSCRibosomal protein S2

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S2

HGNC Alias Symbols

CGI-91; uS2m

Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
7 papers
NM_016034.5
p.R138H
c.413G>A
6 papers
NM_016034.5
p.R110C
c.328C>T
6 papers
NM_016034.5
p.D114N
c.340G>A
3 papers
NM_016034.5
p.R138G
c.412C>G
2 papers
NM_016034.5
p.G174D
c.521G>A
2 papers
NM_016034.5
p.H294R
c.881A>G
1 paper
NM_016034.5
p.R35L
c.104G>T
1 paper
NM_016034.5
p.I49F
c.145A>T
1 paper
NM_016034.5
p.K61N
c.183G>C
1 paper
NM_016034.5
p.K61N
c.183G>T
1 paper
NM_016034.5
p.D86G
c.257A>G
1 paper
NM_016034.5
p.L91Q
c.272T>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."