Varaico: Literature-Extracted Genetic Variants

Gene:MRPL28
Variant:p.G81D

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.G81D
c.242G>A
Surrounding Variants
1 paper
NM_006428.5
p.G81_G82insFs
c.243_244insA
1 paper
NM_006428.5
p.G82S
c.244G>A
1 paper
NM_006428.5
p.L79F
c.237G>C
1 paper
NM_006428.5
p.E83K
c.247G>A
1 paper
NM_006428.5
p.G78R
c.232G>A
1 paper
NM_006428.5
p.R77W
c.229C>T
1 paper
NM_006428.5
p.G88C
c.262G>T
1 paper
NM_006428.5
p.G88S
c.262G>A
1 paper
NM_006428.5
p.Y91H
c.271T>C
1 paper
NM_006428.5
p.A92S
c.274G>T
1 paper
NM_006428.5
p.A92T
c.274G>A
1 paper
NM_006428.5
p.Y70insFs
c.209_210insG
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