Varaico: Literature-Extracted Genetic Variants

Gene:MRPS18B

MRPS18B

23 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_S18aa 111–163UCSCRibosomal protein S18

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S18B

HGNC Alias Symbols

MRPS18-2; PTD017; HSPC183; mS40

Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
3 papers
NM_014046.4
p.P230A
c.688C>G
2 papers
NM_014046.4
p.R89W
c.265C>T
1 paper
NM_014046.4
p.V9V
c.27G>A
1 paper
NM_014046.4
p.D41Y
c.121G>T
1 paper
NM_014046.4
p.P55L
c.164C>T
1 paper
NM_014046.4
p.P72L
c.215C>T
1 paper
NM_014046.4
p.V73I
c.217G>A
1 paper
NM_014046.4
p.Q88*
c.262C>T
1 paper
NM_014046.4
p.R91W
c.271C>T
1 paper
NM_014046.4
p.I95_R96Splc
c.285+2T>G
1 paper
NM_014046.4
p.V120M
c.358G>A
1 paper
NM_014046.4
p.L122V
c.364C>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."