Varaico: Literature-Extracted Genetic Variants

Gene:MRPL28
Variant:p.Y230C

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.Y230C
c.689A>G
Surrounding Variants
1 paper
NM_006428.5
p.V231insFs
c.691_692insAG
1 paper
NM_006428.5
p.A232T
c.694G>A
1 paper
NM_006428.5
p.Q239*
c.715C>T
1 paper
NM_006428.5
p.L243_S244insA
c.727_731ins3
1 paper
NM_006428.5
p.L218delFs
c.653delA
1 paper
NM_006428.5
p.R216_L217delFs
c.646_649del4
1 paper
NM_006428.5
p.E210E
c.630G>A
1 paper
NM_006428.5
p.E209_E210insG
c.625_629ins3
1 paper
NM_006428.5
p.V204M
c.610G>A
1 paper
NM_006428.5
p.E202_W203insT
c.604_608ins3
1 paper
NM_006428.5
p.F194S
c.581T>C
1 paper
NM_006428.5
p.K192_E193Splc
c.576+26C>A
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