Varaico: Literature-Extracted Genetic Variants

Gene:MRPL49
Variant:p.A159fs

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.A159fs
c.475_476fs
Surrounding Variants
1 paper
NM_004927.4
p.Q139L
c.416A>T
1 paper
NM_004927.4
p.K122E
c.364A>G
1 paper
NM_004927.4
p.R105W
c.313C>T
1 paper
NM_004927.4
p.V96I
c.286G>A
2 papers
NM_004927.4
p.H92P
c.275A>C
1 paper
NM_004927.4
p.M91I
c.273G>A
1 paper
NM_004927.4
p.M91K
c.272T>A
3 papers
NM_004927.4
p.R88H
c.263G>A
4 papers
NM_004927.4
p.R88C
c.262C>T
2 papers
NM_004927.4
p.N81N
c.243C>T
1 paper
NM_004927.4
p.P80fs
c.238_239fs
1 paper
NM_004927.4
p.P75L
c.224C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."