Varaico: Literature-Extracted Genetic Variants

Gene:AXL
Variant:p.G517S
Back to variants list

AXL

NM_021913.5:p.G517S

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.

Bruedigam C et al.

Nature Cancer, 2024

37904045 (PubMed )
Supplement: 43018_2023_653_MOESM22_ESM.xlsx › Extended_Data_Fig._9c_HemePACT

Gene-environment interaction in functional hypothalamic amenorrhea.

Barbagallo F et al.

Frontiers in Endocrinology, 2024

Reproductive Phenotypes and Genotypes in Men With IHH.

Dwyer AA et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.

Patil VA et al.

Clinical Endocrinology, 2022

36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1

Exome sequencing and analysis of 454,787 UK Biobank participants.

Backman JD et al.

Nature, 2021

34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM4_ESM.xlsx › ST11

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.

Acierno JS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.

Cassatella D et al.

European Journal of Endocrinology, 2018

29419413 (PubMed )
Supplement: eje-178-377-t002.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-19.xlsx › S_Data_18
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."