Varaico: Literature-Extracted Genetic Variants

Gene:MRPL39
Variant:p.I257fs

MRPL39

27 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...

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L39

HGNC Alias Symbols

RPML5; MRP-L5; MGC104174; PRED66; PRED22; C21orf92; L39mt; MSTP003; MGC3400; FLJ20451; mL39

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017446.4
p.I257fs
c.769_770fs
Surrounding Variants
1 paper
NM_017446.4
p.F260L
c.778T>C
1 paper
NM_017446.4
p.F260L
c.780C>G
1 paper
NM_017446.4
p.F260L
c.780C>A
1 paper
NM_017446.4
p.T272A
c.814A>G
1 paper
NM_017446.4
p.H284R
c.851A>G
2 papers
NM_017446.4
p.G299V
c.896G>T
1 paper
NM_017446.4
p.S301F
c.902C>T
1 paper
NM_017446.4
p.R307_A308Splc
c.921+5G>A
1 paper
NM_017446.4
p.T311fs
c.931_932fs
1 paper
NM_017446.4
p.L214I
c.640C>A
1 paper
NM_017446.4
p.Y211H
c.631T>C
1 paper
NM_017446.4
p.L209F
c.627A>T
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