Varaico: Literature-Extracted Genetic Variants

Gene:MRPS23
Variant:p.S80C

MRPS23

20 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-S23aa 2–130UCSCMitochondrial ribosomal protein S23

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S23

HGNC Alias Symbols

MRP-S23; CGI-138; HSPC329; mS23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016070.4
p.S80C
c.239C>G
Surrounding Variants
1 paper
NM_016070.4
p.G81S
c.241G>A
1 paper
NM_016070.4
p.D86G
c.257A>G
1 paper
NM_016070.4
p.E166K
c.496G>A
1 paper
NM_016070.4
p.A181V
c.542C>T
2 papers
NM_016070.4
p.P59H
c.176C>A
2 papers
NM_016070.4
p.P40L
c.119C>T
7 papers
NM_016070.4
p.P40R
c.119C>G
1 paper
NM_016070.4
p.R21W
c.61C>T
1 paper
NM_016070.4
p.V20I
c.58G>A
1 paper
NM_016070.4
p.R17P
c.50G>C
1 paper
NM_016070.4
p.S14F
c.41C>T
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