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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RRP1B

Variant:p.A13T

RRP1B

21q22.3 (UCSC)OMIM GTEx

59 papers

Pfam Domains

Nop52aa 7–277UCSCNucleolar protein,Nop52

Gene Aliases

HGNC Name

ribosomal RNA processing 1B

HGNC Previous Symbol

KIAA0179

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr21:43659701 G>A

NM_015056.3

p.A13T

c.37G>A

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=4, hom=0)6 overlapping SVs

Surrounding Variants

chr21:43659713 G>C

NM_015056.3

p.A17P

c.49G>C

exact variant not in gnomAD6 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."