Varaico: Literature-Extracted Genetic Variants

Gene:MRPS34
Variant:p.R82G

MRPS34

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

MRP-S34aa 61–187UCSCMitochondrial 28S ribosomal protein S34

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S34

HGNC Alias Symbols

MRP-S12; MGC2616; mS34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_023936.2
p.R82G
c.244C>G
Surrounding Variants
1 paper
NM_023936.2
p.R78L
c.233G>T
2 papers
NM_023936.2
p.G75R
c.223G>C
1 paper
NM_023936.2
p.P72L
c.215C>T
1 paper
NM_023936.2
p.G69S
c.205G>A
2 papers
NM_023936.2
p.L68P
c.203T>C
1 paper
NM_023936.2
p.T98K
c.293C>A
1 paper
NM_023936.2
p.R63L
c.188G>T
1 paper
NM_023936.2
p.E61D
c.183G>T
1 paper
NM_023936.2
p.E61D
c.183G>C
2 papers
NM_023936.2
p.Q107fs
c.319_320fs
1 paper
NM_023936.2
p.Q107insFs
c.320_321ins4
5 papers
NM_023936.2
p.Q107_N108Splc
c.321+1G>T
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