Varaico: Literature-Extracted Genetic Variants

Gene:MRPL45
Variant:p.D171N

MRPL45

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

Tim44aa 118–174UCSCTim44-like domain

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L45

HGNC Alias Symbols

MGC11321; Mba1; mL45

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032351.6
p.D171N
c.511G>A
Surrounding Variants
1 paper
NM_032351.6
p.R198C
c.592C>T
1 paper
NM_032351.6
p.M232I
c.696G>A
1 paper
NM_032351.6
p.M232I
c.696G>C
1 paper
NM_032351.6
p.M232I
c.696G>T
1 paper
NM_032351.6
p.Y233N
c.697T>A
1 paper
NM_032351.6
p.H262Y
c.784C>T
1 paper
NM_032351.6
p.T165N
c.494C>A
1 paper
NM_032351.6
p.G284A
c.851G>C
1 paper
NM_032351.6
p.P289L
c.866C>T
1 paper
NM_032351.6
p.Y293*
c.879T>A
1 paper
NM_032351.6
p.Y293*
c.879T>G
1 paper
NM_032351.6
p.G298V
c.893G>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."