Varaico: Literature-Extracted Genetic Variants

Gene:RPS19
Variant:p.G136*

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
2 papers
NM_001022.4
p.G136*
c.406G>T
Surrounding Variants
4 papers
NM_001022.4
p.A135T
c.403G>A
1 paper
NM_001022.4
p.A135delFs
c.403_404delGC
1 paper
NM_001022.4
p.I134delFs
c.401_402delTC
2 papers
NM_001022.4
p.Q137_V138Splc
c.411+1G>A
1 paper
NM_001022.4
p.D132E
c.396C>A
1 paper
NM_001022.4
p.Q137_V138Splc
c.411+6G>C
1 paper
NM_001022.4
p.Q137_V138Splc
c.411+6G>T
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.D130V
c.389A>T
1 paper
NM_001022.4
p.D130_L131delFs
c.390_391delTC
1 paper
NM_001022.4
p.D130N
c.388G>A
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