Varaico: Literature-Extracted Genetic Variants

Gene:MRPS34
Variant:p.Q107_N108Splc

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
7 papers
NM_023936.2
p.Q107_N108Splc
c.322-10G>A
Surrounding Variants
3 papers
NM_023936.2
p.N108fs
c.322_323fs
1 paper
NM_023936.2
p.L109F
c.327G>T
1 paper
NM_023936.2
p.L109F
c.327G>C
1 paper
NM_023936.2
p.D110V
c.329A>T
1 paper
NM_023936.2
p.T119I
c.356C>T
5 papers
NM_023936.2
p.Q107_N108Splc
c.321+1G>T
2 papers
NM_023936.2
p.Q107fs
c.319_320fs
1 paper
NM_023936.2
p.Q107insFs
c.320_321ins4
1 paper
NM_023936.2
p.T98K
c.293C>A
1 paper
NM_023936.2
p.P143L
c.428C>T
1 paper
NM_023936.2
p.E146Q
c.436G>C
1 paper
NM_023936.2
p.R82G
c.244C>G
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