Varaico: Literature-Extracted Genetic Variants

Gene:MRPS22
Variant:p.R135Q

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
5 papers
NM_020191.4
p.R135Q
c.404G>A
Surrounding Variants
1 paper
NM_020191.4
p.L132L
c.394C>T
1 paper
NM_020191.4
p.T153P
c.457A>C
1 paper
NM_020191.4
p.D160_I161insFs
c.480_481insA
1 paper
NM_020191.4
p.I161fs
c.481_482fs
1 paper
NM_020191.4
p.Y163Y
c.489T>C
1 paper
NM_020191.4
p.R168W
c.502C>T
3 papers
NM_020191.4
p.E113_A114Splc
c.339+5G>A
1 paper
NM_020191.4
p.A109T
c.325G>A
1 paper
NM_020191.4
p.L98L
c.294G>A
2 papers
NM_020191.4
p.I95L
c.283A>C
2 papers
NM_020191.4
p.I95L
c.283A>T
1 paper
NM_020191.4
p.F91Y
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."