Varaico: Literature-Extracted Genetic Variants

Gene:MRPL13
Variant:p.S51R

MRPL13

53 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_L13aa 16–134UCSCRibosomal protein L13

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L13

HGNC Alias Symbols

L13; L13mt; RPML13; L13A; uL13m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014078.6
p.S51R
c.151A>C
Surrounding Variants
1 paper
NM_014078.6
p.S51R
c.153T>G
1 paper
NM_014078.6
p.S51R
c.153T>A
1 paper
NM_014078.6
p.D55N
c.163G>A
1 paper
NM_014078.6
p.H56Y
c.166C>T
1 paper
NM_014078.6
p.G82R
c.244G>C
1 paper
NM_014078.6
p.G82A
c.245G>C
5 papers
NM_014078.6
p.G86E
c.257G>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."