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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPL36AL

Variant:p.K28del1

RPL36AL

12 papers

RefSeq Summary

Cytoplasmic ribosomes, 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 st...

Pfam Domains

Ribosomal_L44aa 17–94UCSCRibosomal protein L44

Gene Aliases

HGNC Name

ribosomal protein L36a like

HGNC Previous Symbol

RPL36AP42

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr14:49619020 CCTT>C

NM_001001.5

p.K28del1

c.82_83delCTT

Ribosomal_L44

exact variant not in gnomAD16 overlapping SVs

Surrounding Variants

1 paper

chr14:49618971 T>A

NM_001001.5

p.Q45L

c.134A>T

Ribosomal_L44

exact variant not in gnomAD16 overlapping SVs

1 paper

chr14:49618962 T>A

NM_001001.5

p.Y48F

c.143A>T

Ribosomal_L44

exact variant not in gnomAD16 overlapping SVs

1 paper

chr14:49619082 C>T

NM_001001.5

p.R8Q

c.23G>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr14:49618880 A>G

NM_001001.5

p.P75P

c.225T>C

Ribosomal_L44

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

3 papers

chr14:49618853 G>A

NM_001001.5

p.A84A

c.252C>T

Ribosomal_L44

Exome: 21.2% (AC=309749, hom=35292)Genome: 22.5% (AC=34147, hom=4133)15 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."