Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.E76K
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KIT

NM_000222.3:p.E76K

Associated Papers

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_6_KIT_pathogenecity.xlsx › Sheet1_AlphaMissense

Analysis of the clinical characteristics and prognosis of adult de novo acute myeloid leukemia (none APL) with PTPN11 mutations.

Sheng L et al.

Open Medicine (warsaw, Poland), 2023

Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer.

Church AJ et al.

Nature Medicine, 2022

Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

Chevrier S et al.

International Journal of Molecular Medicine, 2022

35244186 (PubMed )
Supplement: Supplementary_Data2.xlsx › Feuil1

Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care.

Rennert H et al.

Npj Genomic Medicine, 2016

Point mutations in two conserved glycine residues within the integral membrane protein FhuB affect iron(III) hydroxamate transport.

Köster W et al.

Molecular & General Genetics : Mgg, 1992

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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."