Varaico: Literature-Extracted Genetic Variants

Gene:MRPS9
Variant:p.S247R

MRPS9

46 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_S9aa 274–396UCSCRibosomal protein S9/S16

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S9

HGNC Alias Symbols

RPMS9; MRP-S9; S9mt; uS9m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182640.3
p.S247R
c.741T>G
Surrounding Variants
1 paper
NM_182640.3
p.S247R
c.741T>A
1 paper
NM_182640.3
p.S247R
c.739A>C
3 papers
NM_182640.3
p.R245Q
c.734G>A
1 paper
NM_182640.3
p.S252fs
c.754_755fs
1 paper
NM_182640.3
p.E237E
c.711G>A
1 paper
NM_182640.3
p.V260V
c.780A>T
5 papers
NM_182640.3
p.E264K
c.790G>A
1 paper
NM_182640.3
p.G266A
c.797G>C
1 paper
NM_182640.3
p.S272G
c.814A>G
1 paper
NM_182640.3
p.E273K
c.817G>A
1 paper
NM_182640.3
p.D217_Y218Splc
c.652-1036A>T
1 paper
NM_182640.3
p.D309G
c.926A>G
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