Varaico: Literature-Extracted Genetic Variants

Gene:MRPL49
Variant:p.M5I

MRPL49

32 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

Img2aa 82–166UCSCMitochondrial large subunit ribosomal protein (Img2)

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L49

HGNC Alias Symbols

NOF; NOF1; L49mt; mL49

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004927.4
p.M5I
c.15G>C
Surrounding Variants
1 paper
NM_004927.4
p.M5I
c.15G>A
1 paper
NM_004927.4
p.M5I
c.15G>T
1 paper
NM_004927.4
p.A3A
c.9T>A
1 paper
NM_004927.4
p.T9A
c.25A>G
1 paper
NM_004927.4
p.L10P
c.29T>C
1 paper
NM_004927.4
p.G12E
c.35G>A
1 paper
NM_004927.4
p.L26_S27Splc
c.78+18G>A
1 paper
NM_004927.4
p.Y35H
c.103T>C
2 papers
NM_004927.4
p.V42delFs
c.125_126delTG
2 papers
NM_004927.4
p.V42fs
c.124_125fs
1 paper
NM_004927.4
p.D59N
c.175G>A
1 paper
NM_004927.4
p.G71D
c.212G>A
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