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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPL3L

RPL3L

68 papers

RefSeq Summary

This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protei...

Pfam Domains

Ribosomal_L3aa 1–375UCSCRibosomal protein L3

Gene Aliases

HGNC Name

ribosomal protein L3 like

HGNC Previous Name

ribosomal protein L3-like

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 80 variants

11 papers

chr16:1947063 G>A

NM_005061.3

p.R242W

c.724C>T

Ribosomal_L3

Exome: 0.5% (AC=7569, hom=38)Genome: 0.4% (AC=645, hom=6)7 overlapping SVs

11 papers

chr16:1945498 C>T

NM_005061.3

p.M389_G390Splc

c.1167+1G>A

Exome: 0.3% (AC=3746, hom=9)Genome: 0.2% (AC=256, hom=0)8 overlapping SVs

9 papers

chr16:1953015 G>A

NM_005061.3

p.A75V

c.224C>T

Ribosomal_L3

Exome: 3.2% (AC=46539, hom=976)Genome: 2.5% (AC=3762, hom=75)11 overlapping SVs

8 papers

chr16:1954072 C>T

NM_005061.3

p.G27D

c.80G>A

Ribosomal_L3

Exome: 0.0% (AC=5, hom=0)Genome: n/a9 overlapping SVs

8 papers

chr16:1947003 C>T

NM_005061.3

p.V262M

c.784G>A

Ribosomal_L3

Exome: 2.9% (AC=42634, hom=716)Genome: 2.2% (AC=3403, hom=60)7 overlapping SVs

8 papers

chr16:1945855 G>A

NM_005061.3

p.R343W

c.1027C>T

Ribosomal_L3

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=4, hom=0)7 overlapping SVs

7 papers

chr16:1950864 G>A

NM_005061.3

p.R161W

c.481C>T

Ribosomal_L3

Exome: 0.0% (AC=78, hom=0)Genome: 0.0% (AC=13, hom=0)8 overlapping SVs

7 papers

chr16:1947316 G>A

NM_005061.3

p.T189M

c.566C>T

Ribosomal_L3

Exome: 0.0% (AC=61, hom=0)Genome: 0.0% (AC=11, hom=0)7 overlapping SVs

7 papers

chr16:1946654 C>T

NM_005061.3

p.D308N

c.922G>A

Ribosomal_L3

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

7 papers

chr16:1946653 T>A

NM_005061.3

p.D308V

c.923A>T

Ribosomal_L3

exact variant not in gnomAD7 overlapping SVs

5 papers

chr16:1952892 C>T

NM_005061.3

p.R116H

c.347G>A

Ribosomal_L3

Exome: 0.0% (AC=58, hom=0)Genome: 0.0% (AC=4, hom=0)11 overlapping SVs

5 papers

chr16:1947283 C>T

NM_005061.3

p.R200Q

c.599G>A

Ribosomal_L3

Exome: 1.0% (AC=14078, hom=132)Genome: 0.9% (AC=1313, hom=27)7 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."