Varaico: Literature-Extracted Genetic Variants

Gene:MRPS28
Variant:p.V123V

MRPS28

21 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-S35aa 74–178UCSCMitochondrial ribosomal protein MRP-S35

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S28

HGNC Alias Symbols

MRP-S28; HSPC007

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014018.3
p.V123V
c.369A>G
Surrounding Variants
1 paper
NM_014018.3
p.R125*
c.373A>T
3 papers
NM_014018.3
p.K119R
c.356A>G
1 paper
NM_014018.3
p.E128D
c.384A>T
1 paper
NM_014018.3
p.E128D
c.384A>C
1 paper
NM_014018.3
p.I104M
c.312C>G
1 paper
NM_014018.3
p.R103W
c.307C>T
1 paper
NM_014018.3
p.T90I
c.269C>T
1 paper
NM_014018.3
p.P88L
c.263C>T
1 paper
NM_014018.3
p.F80Y
c.239T>A
1 paper
NM_014018.3
p.G72fs
c.214_215fs
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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."