Varaico: Literature-Extracted Genetic Variants

Gene:MRPL28
Variant:p.P2S

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.P2S
c.4C>T
Surrounding Variants
1 paper
NM_006428.5
p.M1insFs
c.3dupG
1 paper
NM_006428.5
p.M1I
c.3G>T
1 paper
NM_006428.5
p.M1I
c.3G>C
1 paper
NM_006428.5
p.M1I
c.3G>A
1 paper
NM_006428.5
p.M1delFs
c.2delA
1 paper
NM_006428.5
p.L3L
c.7C>T
1 paper
NM_006428.5
p.L10F
c.28C>T
1 paper
NM_006428.5
p.L10L
c.30C>A
2 papers
NM_006428.5
p.W11R
c.31T>C
1 paper
NM_006428.5
p.W11*
c.32G>A
1 paper
NM_006428.5
p.W11*
c.33G>A
1 paper
NM_006428.5
p.Q15delFs
c.43delG
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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."