Varaico: Literature-Extracted Genetic Variants

Gene:MRPL54
Variant:p.E113K

MRPL54

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

Ribosomal_L37aa 62–134UCSCMitochondrial ribosomal protein L37

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L54

HGNC Alias Symbol

mL54

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_172251.3
p.E113K
c.337G>A
Surrounding Variants
1 paper
NM_172251.3
p.R119Q
c.356G>A
1 paper
NM_172251.3
p.F97L
c.291C>A
1 paper
NM_172251.3
p.F97L
c.291C>G
1 paper
NM_172251.3
p.F97F
c.291C>T
1 paper
NM_172251.3
p.F97L
c.289T>C
1 paper
NM_172251.3
p.W95C
c.285G>C
1 paper
NM_172251.3
p.R131Q
c.392G>A
2 papers
NM_172251.3
p.W95Splc
c.284+5G>A
1 paper
NM_172251.3
p.W95C
c.285G>C
1 paper
NM_172251.3
p.W95C
c.285G>T
1 paper
NM_172251.3
p.L68P
c.203T>C
1 paper
NM_172251.3
p.V40Splc
c.118+1G>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."