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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RUNDC3B

Variant:p.R102Q

RUNDC3B

7q21.12 (UCSC)OMIM GTEx

28 papers

Pfam Domains

RUNaa 65–205UCSCRUN domain

Gene Aliases

HGNC Name

RUN domain containing 3B

HGNC Alias Symbols

RPIP9; RPIB9

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr7:87700487 G>A

NM_001134405.2

p.R102Q

c.305G>A

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=1, hom=0)86 overlapping SVs

Surrounding Variants

chr7:87700454 G>A

NM_001134405.2

p.R91H

c.272G>A

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)86 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."