Varaico: Literature-Extracted Genetic Variants

Gene:INPPL1
Variant:p.L632I
Back to variants list

INPPL1

NM_001567.4:p.L632I

Associated Papers

The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.

McGrath MJ et al.

Febs Letters, 2025

Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.

Lin H et al.

Heliyon, 2024

38826758 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Characterization of somatic mutations and pathway alterations during hepatocellular carcinoma vascular invasion using next-generation sequencing.

Li Q et al.

Journal of Gastrointestinal Oncology, 2022

36092348 (PubMed )
Supplement: jgo-13-04-1864-supplementary.pdf

Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial.

Murphy WA et al.

Circulation. Genomic and Precision Medicine, 2022

Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Koh J et al.

Blood Advances, 2021

34535012 (PubMed )
Supplement: advancesADV2021004562-suppl2.xlsx › S9

Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.

Hartman ML et al.

Cells, 2020

31936151 (PubMed )
Supplement: cells-09-00142-s001.pdf

Structural basis for interdomain communication in SHIP2 providing high phosphatase activity.

Le Coq J et al.

Elife, 2017

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results

Inositol polyphosphate phosphatases in human disease.

Hakim S et al.

Current Topics in Microbiology and Immunology, 2012

Impact of SRC homology 2-containing inositol 5'-phosphatase 2 gene polymorphisms detected in a Japanese population on insulin signaling.

Kagawa S et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."