Varaico: Literature-Extracted Genetic Variants

Gene:MRPL49
Variant:p.Y35H

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.Y35H
c.103T>C
Surrounding Variants
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
1 paper
NM_004927.4
p.P75L
c.224C>T
1 paper
NM_004927.4
p.P80fs
c.238_239fs
2 papers
NM_004927.4
p.N81N
c.243C>T
4 papers
NM_004927.4
p.R88C
c.262C>T
3 papers
NM_004927.4
p.R88H
c.263G>A
1 paper
NM_004927.4
p.M91K
c.272T>A
1 paper
NM_004927.4
p.M91I
c.273G>A
2 papers
NM_004927.4
p.H92P
c.275A>C
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