Varaico: Literature-Extracted Genetic Variants

Gene:MRPL1

MRPL1

28 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_L1aa 105–301UCSCRibosomal protein L1p/L10e family

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L1

HGNC Alias Symbols

BM022; uL1m

Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
3 papers
NM_020236.4
p.A4G
c.11C>G
2 papers
NM_020236.4
p.K54delFs
c.160delA
2 papers
NM_020236.4
p.S222F
c.665C>T
2 papers
NM_020236.4
p.D229H
c.685G>C
2 papers
NM_020236.4
p.P283R
c.848C>G
1 paper
NM_020236.4
p.A11Splc
c.32-3628G>A
1 paper
NM_020236.4
p.V24I
c.70G>A
1 paper
NM_020236.4
p.G56fs
c.166_167fs
1 paper
NM_020236.4
p.A74A
c.222A>G
1 paper
NM_020236.4
p.Y87C
c.260A>G
1 paper
NM_020236.4
p.L91V
c.271T>G
1 paper
NM_020236.4
p.A176E
c.527C>A
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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."