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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPS13

RPS13

117 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_S13_Naa 1–60UCSCRibosomal S13/S15 N-terminal domain

Ribosomal_S15aa 70–149UCSCRibosomal protein S15

Gene Aliases

HGNC Name

ribosomal protein S13

HGNC Alias Symbols

S13; uS15

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 61 variants

3 papers

chr11:17077221 A>C

NM_001017.3

p.V33G

c.98T>G

Ribosomal_S13_N

exact variant not in gnomAD14 overlapping SVs

2 papers

chr11:17077625 G>A

NM_001017.3

p.A6V

c.17C>T

Ribosomal_S13_N

exact variant not in gnomAD14 overlapping SVs

2 papers

chr11:17077447 A>T

NM_001017.3

p.Y18*

c.54T>A

Ribosomal_S13_N

exact variant not in gnomAD14 overlapping SVs

2 papers

chr11:17077231 A>C

NM_001017.3

p.S30A

c.88T>G

Ribosomal_S13_N

exact variant not in gnomAD14 overlapping SVs

2 papers

chr11:17077209 A>T

NM_001017.3

p.I37N

c.110T>A

Ribosomal_S13_N

exact variant not in gnomAD14 overlapping SVs

2 papers

chr11:17075178 C>T

NM_001017.3

p.R114H

c.341G>A

Ribosomal_S15

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=4, hom=0)15 overlapping SVs

2 papers

chr11:17075170 G>C

NM_001017.3

p.L117V

c.349C>G

Ribosomal_S15

exact variant not in gnomAD15 overlapping SVs

2 papers

chr11:17075139 C>A

NM_001017.3

p.R127L

c.380G>T

Ribosomal_S15

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

1 paper

chr11:17077641 T>A

NM_001017.3

p.M1L

c.1A>T

Ribosomal_S13_N

exact variant not in gnomAD14 overlapping SVs

1 paper

chr11:17077641 T>G

NM_001017.3

p.M1L

c.1A>C

Ribosomal_S13_N

exact variant not in gnomAD14 overlapping SVs

1 paper

chr11:17077640 A>C

NM_001017.3

p.M1R

c.2T>G

Ribosomal_S13_N

exact variant not in gnomAD14 overlapping SVs

1 paper

chr11:17077639 C>A

NM_001017.3

p.M1I

c.3G>T

Ribosomal_S13_N

exact variant not in gnomAD14 overlapping SVs

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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."