Varaico: Literature-Extracted Genetic Variants

Gene:RPS2
Variant:p.I244L

RPS2

105 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_S5aa 102–166UCSCRibosomal protein S5, N-terminal domain
Ribosomal_S5_Caa 186–259UCSCRibosomal protein S5, C-terminal domain

Gene Aliases

HGNC Name

ribosomal protein S2

HGNC Alias Symbols

LLREP3; S2; uS5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002952.4
p.I244L
c.730A>C
Surrounding Variants
1 paper
NM_002952.4
p.T240P
c.718A>C
1 paper
NM_002952.4
p.Y250S
c.749A>C
1 paper
NM_002952.4
p.T252P
c.754A>C
1 paper
NM_002952.4
p.E258*
c.772G>T
1 paper
NM_002952.4
p.Y266S
c.797A>C
1 paper
NM_002952.4
p.Q267E
c.799C>G
1 paper
NM_002952.4
p.Q267P
c.800A>C
1 paper
NM_002952.4
p.E268A
c.803A>C
1 paper
NM_002952.4
p.E268del1
c.802_804delCTC
1 paper
NM_002952.4
p.D271A
c.812A>C
2 papers
NM_002952.4
p.K275R
c.824A>G
1 paper
NM_002952.4
p.R284W
c.850C>T
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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."