Varaico: Literature-Extracted Genetic Variants

Gene:MRPL28
Variant:p.P68S

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.P68S
c.202C>T
Surrounding Variants
1 paper
NM_006428.5
p.P68insFs
c.202_203insT
1 paper
NM_006428.5
p.P68L
c.203C>T
1 paper
NM_006428.5
p.I67V
c.199A>G
1 paper
NM_006428.5
p.Y70insFs
c.209_210insG
1 paper
NM_006428.5
p.D64insFs
c.191dupA
1 paper
NM_006428.5
p.R61delFs
c.183delA
1 paper
NM_006428.5
p.R59_E60del2
c.175_179del6
1 paper
NM_006428.5
p.E60*
c.178G>T
2 papers
NM_006428.5
p.R59P
c.176G>C
1 paper
NM_006428.5
p.R77W
c.229C>T
1 paper
NM_006428.5
p.G78R
c.232G>A
2 papers
NM_006428.5
p.Q58*
c.172C>T
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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."