Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.D130N

RPS19

424 papers

RefSeq Summary

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structural...

Pfam Domains

Ribosomal_S19eaa 5–141UCSCRibosomal protein S19e

Gene Aliases

HGNC Name

ribosomal protein S19

HGNC Previous Symbol

LOH19CR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001022.4
p.D130N
c.388G>A
Surrounding Variants
1 paper
NM_001022.4
p.D130fs
c.388_389fs
2 papers
NM_001022.4
p.D130fs
c.388_389fs
1 paper
NM_001022.4
p.D130V
c.389A>T
1 paper
NM_001022.4
p.D130_L131delFs
c.390_391delTC
1 paper
NM_001022.4
p.R129fs
c.385_386fs
3 papers
NM_001022.4
p.R129delFs
c.386_387delGA
6 papers
NM_001022.4
p.L131P
c.392T>C
8 papers
NM_001022.4
p.L131R
c.392T>G
1 paper
NM_001022.4
p.R129insFs
c.385dupA
2 papers
NM_001022.4
p.Q128*
c.382C>T
4 papers
NM_001022.4
p.Q128_R129delFs
c.384_385delAA
1 paper
NM_001022.4
p.D132E
c.396C>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."