Varaico: Literature-Extracted Genetic Variants

Gene:MRPL46
Variant:p.R90C

MRPL46

17 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-L46aa 45–155UCSC39S mitochondrial ribosomal protein L46

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L46

HGNC Alias Symbols

LIECG2; P2ECSL; mL46

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022163.4
p.R90C
c.268C>T
Surrounding Variants
1 paper
NM_022163.4
p.D86E
c.258C>G
1 paper
NM_022163.4
p.D86E
c.258C>A
1 paper
NM_022163.4
p.D86G
c.257A>G
1 paper
NM_022163.4
p.R97Q
c.290G>A
1 paper
NM_022163.4
p.I114R
c.341T>G
1 paper
NM_022163.4
p.D169G
c.506A>G
1 paper
NM_022163.4
p.P180T
c.538C>A
1 paper
NM_022163.4
p.G181V
c.542G>T
1 paper
NM_022163.4
p.R190*
c.568C>T
1 paper
NM_022163.4
p.E68K
c.202G>A
1 paper
NM_022163.4
p.A36V
c.107C>T
1 paper
NM_022163.4
p.A13T
c.37G>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."