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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPIPB8

NPIPB8

16p11.2 (UCSC)GTEx

3 papers

Pfam Domains

NPIPaa 68–266UCSCNuclear pore complex interacting protein (NPIP)

Gene Aliases

HGNC Name

nuclear pore complex interacting protein family member B8

HGNC Previous Name

nuclear pore complex interacting protein family, member B8

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr16:28638466 G>A

NM_001310136.2

p.E36K

c.106G>A

Exome: 36.5% (AC=431757, hom=115051)Genome: 46.0% (AC=66175, hom=17423)9 overlapping SVs

chr16:28658038 C>T

NM_001310136.2

p.A236V

c.707C>T

Exome: 35.9% (AC=17825, hom=5)Genome: 41.4% (AC=24, hom=1)11 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."