Varaico: Literature-Extracted Genetic Variants

Gene:MRPL28
Variant:p.H27Y

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
3 papers
NM_006428.5
p.H27Y
c.79C>T
Surrounding Variants
1 paper
NM_006428.5
p.I20_G26insFs
c.59_77dup19
2 papers
NM_006428.5
p.G26D
c.77G>A
2 papers
NM_006428.5
p.L24L
c.72G>A
1 paper
NM_006428.5
p.R30C
c.88C>T
1 paper
NM_006428.5
p.R30delFs
c.88delG
1 paper
NM_006428.5
p.C21S
c.62G>C
1 paper
NM_006428.5
p.C21S
c.61T>A
1 paper
NM_006428.5
p.G19D
c.56G>A
1 paper
NM_006428.5
p.R36W
c.106C>T
1 paper
NM_006428.5
p.R36G
c.106C>G
1 paper
NM_006428.5
p.E35del1
c.103_105delCTC
1 paper
NM_006428.5
p.R36Q
c.107G>A
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