Varaico: Literature-Extracted Genetic Variants

Gene:MRPL24
Variant:p.R208Q

MRPL24

34 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

KOWaa 58–88UCSCKOW motif
ribosomal_L24aa 91–154UCSCLarge ribosomal subunit protein uL24, C-terminal domain

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L24

HGNC Alias Symbols

MRP-L18; uL24m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145729.3
p.R208Q
c.623G>A
Surrounding Variants
1 paper
NM_145729.3
p.M199I
c.597G>T
1 paper
NM_145729.3
p.M199I
c.597G>C
1 paper
NM_145729.3
p.M199I
c.597G>A
1 paper
NM_145729.3
p.L191Q
c.572T>A
1 paper
NM_145729.3
p.D181Y
c.541G>T
2 papers
NM_145729.3
p.E180K
c.538G>A
1 paper
NM_145729.3
p.G151G
c.453G>T
1 paper
NM_145729.3
p.R145*
c.433C>T
1 paper
NM_145729.3
p.T131I
c.392C>T
1 paper
NM_145729.3
p.D124H
c.370G>C
1 paper
NM_145729.3
p.L122V
c.364C>G
1 paper
NM_145729.3
p.R96H
c.287G>A
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