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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPL3L

Variant:p.R226*

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

Selected Variant

2 papers

chr16:1947206 G>A

NM_005061.3

p.R226*

c.676C>T

Ribosomal_L3

Exome: 0.0% (AC=27, hom=1)Genome: n/a7 overlapping SVs

Surrounding Variants

1 paper

chr16:1947205 C>T

NM_005061.3

p.R226Q

c.677G>A

Ribosomal_L3

Exome: 0.1% (AC=1433, hom=18)Genome: 0.1% (AC=173, hom=1)7 overlapping SVs

1 paper

chr16:1947202 C>A

NM_005061.3

p.G227V

c.680G>T

Ribosomal_L3

exact variant not in gnomAD7 overlapping SVs

1 paper

chr16:1947200 C>T

NM_005061.3

p.V228I

c.682G>A

Ribosomal_L3

Exome: 0.0% (AC=419, hom=9)Genome: 0.0% (AC=25, hom=0)7 overlapping SVs

2 papers

chr16:1947254 C>T

NM_005061.3

p.V210M

c.628G>A

Ribosomal_L3

Exome: 0.0% (AC=176, hom=0)Genome: 0.0% (AC=12, hom=0)7 overlapping SVs

1 paper

chr16:1947277 T>C

NM_005061.3

p.E202G

c.605A>G

Ribosomal_L3

Exome: 0.0% (AC=1, hom=0)Genome: n/a7 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

4 papers

chr16:1947096 C>A

NM_005061.3

p.V231F

c.691G>T

Ribosomal_L3

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)7 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

1 paper

chr16:1947323 C>T

NM_005061.3

p.G187S

c.559G>A

Ribosomal_L3

Exome: 0.0% (AC=87, hom=0)Genome: 0.0% (AC=33, hom=0)7 overlapping SVs

1 paper

chr16:1947086 C>A

NM_005061.3

p.R234L

c.701G>T

Ribosomal_L3

Exome: 0.0% (AC=109, hom=0)Genome: 0.0% (AC=6, hom=0)7 overlapping SVs

1 paper

chr16:1947332 G>A

NM_005061.3

p.Q184*

c.550C>T

Ribosomal_L3

Exome: 0.0% (AC=2, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr16:1947065 G>A

NM_005061.3

p.P241L

c.722C>T

Ribosomal_L3

Exome: 0.0% (AC=76, hom=0)Genome: 0.0% (AC=11, hom=0)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."