Varaico: Literature-Extracted Genetic Variants

Gene:MRPL4

MRPL4

33 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

Ribosomal_L4aa 80–272UCSCRibosomal protein L4/L1 family

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L4

HGNC Alias Symbols

CGI-28; uL4m

Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
1 paper
NM_015956.3
p.Q3*
c.7C>T
1 paper
NM_015956.3
p.A11insFs
c.31dupG
1 paper
NM_015956.3
p.Q19_G20Splc
c.58-2A>T
1 paper
NM_015956.3
p.L21delFs
c.63delG
1 paper
NM_015956.3
p.S23insFs
c.67dupT
1 paper
NM_015956.3
p.T32S
c.94A>T
1 paper
NM_015956.3
p.T32S
c.95C>G
1 paper
NM_015956.3
p.P35L
c.104C>T
1 paper
NM_015956.3
p.S40R
c.118A>C
1 paper
NM_015956.3
p.S40R
c.120C>A
1 paper
NM_015956.3
p.S40R
c.120C>G
1 paper
NM_015956.3
p.P46delFs
c.138delC
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."