Varaico: Literature-Extracted Genetic Variants

Gene:MRPS22
Variant:p.R202H

MRPS22

79 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-S22aa 67–308UCSCMitochondrial 28S ribosomal protein S22

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S22

HGNC Alias Symbols

MRP-S22; GK002; GIBT; mS22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_020191.4
p.R202H
c.605G>A
Surrounding Variants
1 paper
NM_020191.4
p.K203E
c.607A>G
5 papers
NM_020191.4
p.T206I
c.617C>T
1 paper
NM_020191.4
p.I193M
c.579A>G
2 papers
NM_020191.4
p.R191Q
c.572G>A
12 papers
NM_020191.4
p.L215P
c.644T>C
1 paper
NM_020191.4
p.R216G
c.646A>G
1 paper
NM_020191.4
p.R216_T217Splc
c.648+1G>A
2 papers
NM_020191.4
p.R216_T217Splc
c.648+1G>T
1 paper
NM_020191.4
p.G179D
c.536G>A
18 papers
NM_020191.4
p.R170H
c.509G>A
1 paper
NM_020191.4
p.R170S
c.508C>A
1 paper
NM_020191.4
p.R170C
c.508C>T
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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."