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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDFIP2

Variant:p.S152N

NDFIP2

13q31.1 (UCSC)OMIM GTEx

16 papers

Pfam Domains

NEDD4_Bsd2aa 169–213UCSCNEDD4/Bsd2

NEDD4_Bsd2aa 225–288UCSCNEDD4/Bsd2

NEDD4_Bsd2aa 282–327UCSCNEDD4/Bsd2

Gene Aliases

HGNC Name

Nedd4 family interacting protein 2

HGNC Alias Symbols

KIAA1165; N4wbp5a

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr13:79520943 G>A

NM_019080.3

p.S152N

c.455G>A

Exome: 0.3% (AC=3933, hom=11)Genome: 0.2% (AC=290, hom=2)12 overlapping SVs

Surrounding Variants

chr13:79520895 C>T

NM_019080.3

p.A136V

c.407C>T

Exome: 12.7% (AC=184901, hom=12661)Genome: 9.8% (AC=14960, hom=919)13 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."