Varaico: Literature-Extracted Genetic Variants

Gene:MRPL28
Variant:p.K102E

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.K102E
c.304A>G
Surrounding Variants
1 paper
NM_006428.5
p.R100S
c.300G>T
1 paper
NM_006428.5
p.V104V
c.312G>A
2 papers
NM_006428.5
p.L97R
c.290T>G
1 paper
NM_006428.5
p.K106K
c.318G>A
1 paper
NM_006428.5
p.K103_W105del3
c.307_314del9
1 paper
NM_006428.5
p.L109R
c.326T>G
2 papers
NM_006428.5
p.R112G
c.334C>G
1 paper
NM_006428.5
p.F114S
c.341T>C
1 paper
NM_006428.5
p.S116C
c.346A>T
1 paper
NM_006428.5
p.V125M
c.373G>A
1 paper
NM_006428.5
p.D133E
c.399C>G
1 paper
NM_006428.5
p.D133E
c.399C>A
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