Varaico: Literature-Extracted Genetic Variants

Gene:KIT
Variant:p.R49C
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KIT

NM_000222.3:p.R49C

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

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Boström M et al.

Nature Communications, 2022

36396655 (PubMed )
Supplement: 41467_2022_34746_MOESM20_ESM.xlsx › Fig_2_d

Retrospective analysis of somatic mutations and clonal hematopoiesis in astronauts.

Brojakowska A et al.

Communications Biology, 2022

35978153 (PubMed )
Supplement: 42003_2022_3777_MOESM3_ESM.xlsx › Sheet1

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM3_ESM.xlsx › supplementary_3_filtered

Validating Comprehensive Next-Generation Sequencing Results for Precision Oncology: The NCT/DKTK Molecularly Aided Stratification for Tumor Eradication Research Experience.

Lier A et al.

Jco Precision Oncology, 2018

35135162 (PubMed )
Supplement: ds_po.18.00171-2.pdf

Towards Personalized Medicine in Melanoma: Implementation of a Clinical Next-Generation Sequencing Panel.

de Unamuno Bustos B et al.

Scientific Reports, 2017

28356599 (PubMed )
Supplement: 41598_2017_606_MOESM2_ESM.xls › Table_S1

Mutational profiling of colorectal cancers with microsatellite instability.

Lin EI et al.

Oncotarget, 2015

Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing.

Harismendy O et al.

Genome Biology, 2011

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