Varaico: Literature-Extracted Genetic Variants

Gene:MRPL1
Variant:p.D195E

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
Selected Variant
1 paper
NM_020236.4
p.D195E
c.585C>A
Surrounding Variants
1 paper
NM_020236.4
p.A194E
c.581C>A
1 paper
NM_020236.4
p.V200F
c.598G>T
1 paper
NM_020236.4
p.D189Y
c.565G>T
1 paper
NM_020236.4
p.L210V
c.628T>G
2 papers
NM_020236.4
p.S222F
c.665C>T
1 paper
NM_020236.4
p.S182I
c.545G>T
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."