Varaico: Literature-Extracted Genetic Variants

Gene:MRPL39
Variant:p.K83T

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.K83T
c.248A>C
Surrounding Variants
1 paper
NM_017446.4
p.R54S
c.162G>T
1 paper
NM_017446.4
p.R54S
c.162G>C
1 paper
NM_017446.4
p.L47V
c.139C>G
1 paper
NM_017446.4
p.L40*
c.119T>A
2 papers
NM_017446.4
p.M1T
c.2T>C
1 paper
NM_017446.4
p.E97*
c.289G>T
1 paper
NM_017446.4
p.K102K
c.306G>A
1 paper
NM_017446.4
p.Q111*
c.331C>T
1 paper
NM_017446.4
p.F127Y
c.380T>A
1 paper
NM_017446.4
p.L128P
c.383T>C
1 paper
NM_017446.4
p.D132H
c.394G>C
1 paper
NM_017446.4
p.P135S
c.403C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."