Varaico: Literature-Extracted Genetic Variants

Gene:MRPS24
Variant:p.D80E

MRPS24

13 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

MRP-S24aa 36–167UCSCMitochondrial ribosome subunit S24

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S24

HGNC Alias Symbols

MRP-S24; HSPC335

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032014.3
p.D80E
c.240C>A
Surrounding Variants
1 paper
NM_032014.3
p.D80E
c.240C>G
1 paper
NM_032014.3
p.R93C
c.277C>T
1 paper
NM_032014.3
p.R93L
c.278G>T
2 papers
NM_032014.3
p.W97R
c.289T>C
2 papers
NM_032014.3
p.W97R
c.289T>A
1 paper
NM_032014.3
p.R112C
c.334C>T
1 paper
NM_032014.3
p.R113W
c.337C>T
1 paper
NM_032014.3
p.R65C
c.193C>T
1 paper
NM_032014.3
p.H60Q
c.180C>G
1 paper
NM_032014.3
p.H60Q
c.180C>A
1 paper
NM_032014.3
p.P22L
c.65C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."