Varaico: Literature-Extracted Genetic Variants

Gene:MRPL53
Variant:p.R73C

MRPL53

22 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_L53aa 20–71UCSC39S ribosomal protein L53/MRP-L53

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L53

HGNC Alias Symbol

mL53

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_053050.5
p.R73C
c.217C>T
Surrounding Variants
1 paper
NM_053050.5
p.A83T
c.247G>A
1 paper
NM_053050.5
p.S92P
c.274T>C
1 paper
NM_053050.5
p.F68S
c.203T>C
1 paper
NM_053050.5
p.L47_I52delFs
c.141_156del16
1 paper
NM_053050.5
p.T45S
c.134C>G
1 paper
NM_053050.5
p.T45S
c.133A>T
1 paper
NM_053050.5
p.T36A
c.106A>G
2 papers
NM_053050.5
p.T32N
c.95C>A
1 paper
NM_053050.5
p.E28V
c.83A>T
1 paper
NM_053050.5
p.K25E
c.73A>G
1 paper
NM_053050.5
p.Q15E
c.43C>G
1 paper
NM_053050.5
p.K14N
c.42A>T
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