Varaico: Literature-Extracted Genetic Variants

Gene:MRPL28
Variant:p.L10L

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.L10L
c.30C>A
Surrounding Variants
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.L10F
c.28C>T
1 paper
NM_006428.5
p.W11*
c.33G>A
1 paper
NM_006428.5
p.Q15delFs
c.43delG
2 papers
NM_006428.5
p.L16P
c.47T>C
1 paper
NM_006428.5
p.L16Q
c.47T>A
1 paper
NM_006428.5
p.Q15_L16delFs
c.43_46del4
1 paper
NM_006428.5
p.L16L
c.48G>A
1 paper
NM_006428.5
p.R17Q
c.50G>A
1 paper
NM_006428.5
p.L3L
c.7C>T
1 paper
NM_006428.5
p.G19D
c.56G>A
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