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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIP5K1B

Variant:p.A10E

PIP5K1B

9q21.11 (UCSC)OMIM GTEx

51 papers

Pfam Domains

PIP5Kaa 108–394UCSCPhosphatidylinositol-4-phosphate 5-Kinase

Gene Aliases

HGNC Name

phosphatidylinositol-4-phosphate 5-kinase type 1 beta

HGNC Alias Symbols

STM7; MSS4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr9:68822643 C>A

NM_003558.4

p.A10E

c.29C>A

Exome: 0.0% (AC=229, hom=0)Genome: 0.0% (AC=15, hom=0)11 overlapping SVs

Surrounding Variants

chr9:68822655 A>G

NM_003558.4

p.K14R

c.41A>G

Exome: 0.1% (AC=1868, hom=30)Genome: 0.2% (AC=252, hom=5)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."