Varaico: Literature-Extracted Genetic Variants

Gene:MRPS2
Variant:p.D291N

MRPS2

32 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_S2aa 84–185UCSCRibosomal protein S2
Ribosomal_S2aa 184–260UCSCRibosomal protein S2

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S2

HGNC Alias Symbols

CGI-91; uS2m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016034.5
p.D291N
c.871G>A
Surrounding Variants
2 papers
NM_016034.5
p.H294R
c.881A>G
1 paper
NM_016034.5
p.A285T
c.853G>A
1 paper
NM_016034.5
p.G280R
c.838G>A
1 paper
NM_016034.5
p.G280R
c.838G>C
1 paper
NM_016034.5
p.T258A
c.772A>G
1 paper
NM_016034.5
p.R251K
c.752G>A
1 paper
NM_016034.5
p.V246M
c.736G>A
1 paper
NM_016034.5
p.V220A
c.659T>C
1 paper
NM_016034.5
p.R188H
c.563G>A
1 paper
NM_016034.5
p.V187fs
c.559_560fs
1 paper
NM_016034.5
p.V187_L189delFs
c.560_567del8
2 papers
NM_016034.5
p.G174D
c.521G>A
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