Varaico: Literature-Extracted Genetic Variants

Gene:MRPS30
Variant:p.C6F

MRPS30

141 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

PDCD9aa 1–429UCSCMitochondrial 28S ribosomal protein S30 (PDCD9)

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S30

HGNC Previous Symbol

PDCD9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016640.4
p.C6F
c.17G>T
Surrounding Variants
1 paper
NM_016640.4
p.C6S
c.16T>A
1 paper
NM_016640.4
p.R8W
c.22A>T
1 paper
NM_016640.4
p.R8K
c.23G>A
1 paper
NM_016640.4
p.P9T
c.25C>A
2 papers
NM_016640.4
p.R12S
c.34C>A
1 paper
NM_016640.4
p.G13D
c.38G>A
1 paper
NM_016640.4
p.L18W
c.53T>G
1 paper
NM_016640.4
p.A21V
c.62C>T
1 paper
NM_016640.4
p.A22A
c.66T>A
1 paper
NM_016640.4
p.E30G
c.89A>G
1 paper
NM_016640.4
p.T32S
c.94A>T
1 paper
NM_016640.4
p.T32N
c.95C>A
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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."