Varaico: Literature-Extracted Genetic Variants

Gene:MRPL39
Variant:p.L209F

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.L209F
c.627A>T
Surrounding Variants
1 paper
NM_017446.4
p.L209F
c.627A>C
1 paper
NM_017446.4
p.Y211H
c.631T>C
1 paper
NM_017446.4
p.L214I
c.640C>A
2 papers
NM_017446.4
p.K196_E197Splc
c.589-924G>A
1 paper
NM_017446.4
p.D190D
c.570T>C
1 paper
NM_017446.4
p.L189V
c.565C>G
1 paper
NM_017446.4
p.V183L
c.547G>T
1 paper
NM_017446.4
p.V183L
c.547G>C
2 papers
NM_017446.4
p.S176delFs
c.526delA
2 papers
NM_017446.4
p.S176fs
c.526_527fs
1 paper
NM_017446.4
p.A147D
c.440C>A
1 paper
NM_017446.4
p.I257fs
c.769_770fs
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