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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPL24

RPL24

49 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_L24eaa 1–66UCSCRibosomal protein L24e

Gene Aliases

HGNC Name

ribosomal protein L24

HGNC Alias Symbols

L24; eL24

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 30 variants

2 papers

chr3:101686526 T>C

NM_000986.4

p.I13V

c.37A>G

Ribosomal_L24e

Exome: 0.0% (AC=1, hom=0)Genome: n/a68 overlapping SVs

2 papers

chr3:101685886 A>C

NM_000986.4

p.S42A

c.124T>G

Ribosomal_L24e

Exome: 0.0% (AC=138, hom=5)Genome: 0.0% (AC=7, hom=0)68 overlapping SVs

2 papers

chr3:101685882 T>C

NM_000986.4

p.K43R

c.128A>G

Ribosomal_L24e

Exome: 0.0% (AC=62, hom=0)Genome: 0.0% (AC=1, hom=0)68 overlapping SVs

2 papers

chr3:101682879 C>T

NM_000986.4

p.R74Q

c.221G>A

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)67 overlapping SVs

1 paper

chr3:101686552 T>A

NM_000986.4

p.E4V

c.11A>T

Ribosomal_L24e

exact variant not in gnomAD68 overlapping SVs

1 paper

chr3:101686544 T>A

NM_000986.4

p.S7C

c.19A>T

Ribosomal_L24e

exact variant not in gnomAD68 overlapping SVs

1 paper

chr3:101686531 T>A

NM_000986.4

p.Y11F

c.32A>T

Ribosomal_L24e

exact variant not in gnomAD68 overlapping SVs

1 paper

chr3:101686530 G>A

NM_000986.4

p.Y11Y

c.33C>T

Ribosomal_L24e

exact variant not in gnomAD68 overlapping SVs

1 paper

chr3:101686524 G>A

NM_000986.4

p.I13I

c.39C>T

Ribosomal_L24e

Exome: 0.0% (AC=1, hom=0)Genome: n/a68 overlapping SVs

1 paper

chr3:101686494 C>A

NM_000986.4

p.R23S

c.69G>T

Ribosomal_L24e

exact variant not in gnomAD68 overlapping SVs

1 paper

chr3:101686494 C>G

NM_000986.4

p.R23S

c.69G>C

Ribosomal_L24e

exact variant not in gnomAD68 overlapping SVs

1 paper

chr3:101686483 T>A

NM_000986.4

p.K27M

c.80A>T

Ribosomal_L24e

exact variant not in gnomAD68 overlapping SVs

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