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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPIPA8

NPIPA8

16p12.3 (UCSC)GTEx

4 papers

Gene Aliases

HGNC Name

nuclear pore complex interacting protein family member A8

HGNC Alias Symbol

LCR16a9

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr16:18324472 T>C

NM_001282511.3

p.P73P

c.219A>G

Exome: 0.0% (AC=142, hom=3)Genome: 0.0% (AC=21, hom=0)12 overlapping SVs

chr16:18321090 T>C

NM_001282511.3

p.R158G

c.472A>G

Exome: 4.4% (AC=46238, hom=3469)Genome: 4.5% (AC=4673, hom=278)13 overlapping SVs

chr16:18318126 GGG>N

NM_001282511.3

p.P318fs

c.952_953fs

exact variant not in gnomAD12 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."