Varaico: Literature-Extracted Genetic Variants

Gene:MRPS34
Variant:p.L14V

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.L14V
c.40C>G
Surrounding Variants
1 paper
NM_023936.2
p.L14P
c.41T>C
1 paper
NM_023936.2
p.A15P
c.43G>C
3 papers
NM_023936.2
p.E13K
c.37G>A
1 paper
NM_023936.2
p.L21P
c.62T>C
1 paper
NM_023936.2
p.E23Q
c.67G>C
1 paper
NM_023936.2
p.K4Q
c.10A>C
11 papers
NM_023936.2
p.Q32*
c.94C>T
1 paper
NM_023936.2
p.G47E
c.140G>A
1 paper
NM_023936.2
p.G47_L50delFs
c.141_150del10
1 paper
NM_023936.2
p.E61D
c.183G>T
1 paper
NM_023936.2
p.E61D
c.183G>C
1 paper
NM_023936.2
p.R63L
c.188G>T
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