Varaico: Literature-Extracted Genetic Variants

Gene:MRPL42
Variant:p.N44K

MRPL42

12 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-S32aa 47–142UCSCMitochondrial 28S ribosomal protein S32

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L42

HGNC Alias Symbols

MRPS32; MRP-L31; RPML31; PTD007; HSPC204; MRPL31; mL42

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014050.4
p.N44K
c.132T>A
Surrounding Variants
1 paper
NM_014050.4
p.N44K
c.132T>G
1 paper
NM_014050.4
p.P40R
c.119C>G
1 paper
NM_014050.4
p.N24N
c.72T>C
1 paper
NM_014050.4
p.P68Q
c.203C>A
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