Varaico: Literature-Extracted Genetic Variants

Gene:RPS17
Variant:p.Y53*

RPS17

113 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 four RNA species and approximately 80 structu...

Pfam Domains

Ribosomal_S17eaa 1–122UCSCRibosomal S17

Gene Aliases

HGNC Name

ribosomal protein S17

HGNC Previous Symbol

RPS17L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001021.6
p.Y53*
c.159T>G
Surrounding Variants
1 paper
NM_001021.6
p.Y53Y
c.159T>C
2 papers
NM_001021.6
p.Y53*
c.159T>A
1 paper
NM_001021.6
p.T55M
c.164C>T
1 paper
NM_001021.6
p.M58I
c.174G>A
1 paper
NM_001021.6
p.M58_K59del2
c.172_176del6
1 paper
NM_001021.6
p.G52Splc
c.156-30C>T
3 papers
NM_001021.6
p.R67delFs
c.200_201delTC
1 paper
NM_001021.6
p.G68fs
c.202_203fs
1 paper
NM_001021.6
p.V66_I69delFs
c.196_206del11
1 paper
NM_001021.6
p.E76E
c.228G>A
1 paper
NM_001021.6
p.E77K
c.229G>A
1 paper
NM_001021.6
p.G52Splc
c.156-73G>C
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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."