Varaico: Literature-Extracted Genetic Variants

Gene:MRPL28
Variant:p.I135I

MRPL28

255 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_L28aa 76–138UCSCRibosomal L28 family

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L28

HGNC Previous Symbol

MAAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006428.5
p.I135I
c.405C>T
Surrounding Variants
1 paper
NM_006428.5
p.D133E
c.399C>G
1 paper
NM_006428.5
p.D133E
c.399C>A
1 paper
NM_006428.5
p.A138delFs
c.412delC
1 paper
NM_006428.5
p.Y139Y
c.417T>C
1 paper
NM_006428.5
p.L146P
c.437T>C
1 paper
NM_006428.5
p.V125M
c.373G>A
1 paper
NM_006428.5
p.S116C
c.346A>T
1 paper
NM_006428.5
p.F114S
c.341T>C
2 papers
NM_006428.5
p.R112G
c.334C>G
1 paper
NM_006428.5
p.L109R
c.326T>G
1 paper
NM_006428.5
p.K106K
c.318G>A
1 paper
NM_006428.5
p.K103_W105del3
c.307_314del9
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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."