Varaico: Literature-Extracted Genetic Variants

Gene:MRPL28

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
1–12 of 115 variants
3 papers
NM_006428.5
p.H27Y
c.79C>T
3 papers
NM_006428.5
p.Y230C
c.689A>G
2 papers
NM_006428.5
p.W11R
c.31T>C
2 papers
NM_006428.5
p.L16P
c.47T>C
2 papers
NM_006428.5
p.L24L
c.72G>A
2 papers
NM_006428.5
p.G26D
c.77G>A
2 papers
NM_006428.5
p.Q58*
c.172C>T
2 papers
NM_006428.5
p.R59P
c.176G>C
2 papers
NM_006428.5
p.L97R
c.290T>G
2 papers
NM_006428.5
p.R112G
c.334C>G
2 papers
NM_006428.5
p.D160E
c.480C>G
2 papers
NM_006428.5
p.D160E
c.480C>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."