Varaico: Literature-Extracted Genetic Variants

Gene:MRPL30
Variant:p.K93_A94Splc

MRPL30

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_L30aa 67–117UCSCRibosomal protein L30p/L7e

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L30

HGNC Alias Symbols

MRP-L28; RPML28; uL30m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145212.4
p.K93_A94Splc
c.279+1G>A
Surrounding Variants
1 paper
NM_145212.4
p.P79S
c.235C>T
1 paper
NM_145212.4
p.G57S
c.169G>A
1 paper
NM_145212.4
p.H115Y
c.343C>T
8 papers
NM_145212.4
p.A130T
c.388G>A
1 paper
NM_145212.4
p.E131Q
c.391G>C
1 paper
NM_145212.4
p.N136I
c.407A>T
1 paper
NM_145212.4
p.G143R
c.427G>A
1 paper
NM_145212.4
p.G143R
c.427G>C
1 paper
NM_145212.4
p.H159L
c.476A>T
1 paper
NM_145212.4
p.K44_V45Splc
c.133-4884T>C
8 papers
NM_145212.4
p.K44*
c.130A>T
1 paper
NM_145212.4
p.R40T
c.119G>C
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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."