Varaico: Literature-Extracted Genetic Variants

Gene:MTAP
Variant:p.V56I
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MTAP

NM_002451.4:p.V56I

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.

Castaneda-Garcia C et al.

Human Molecular Genetics, 2022

35357426 (PubMed )
Supplement: supplementary_table_1_ddac074.xlsx › Supplementary_Table_1

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM15_ESM.xlsx › Supplementary_Data_12

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

Phenotypic and genotypic analysis of amelanotic and hypomelanotic melanoma patients.

Rayner JE et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096

Skin Pigmentation Genetics for the Clinic.

Ainger SA et al.

Dermatology (basel, Switzerland), 2017

A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Lu C et al.

Cold Spring Harbor Molecular Case Studies, 2016

27148581 (PubMed )
Supplement: supp_2.1.a000687_Supp_Table_2.xlsx › germline.missense

Characterization of the Methylthioadenosine Phosphorylase Polymorphism rs7023954 - Incidence and Effects on Enzymatic Function in Malignant Melanoma.

Limm K et al.

Plos One, 2016

Next generation sequencing of triple negative breast cancer to find predictors for chemotherapy response.

Lips EH et al.

Breast Cancer Research : Bcr, 2015

26433948 (PubMed )
Supplement: 13058_2015_642_MOESM4_ESM.xlsx › somatic_variants_proposal2.txt

Linkage and association study of late-onset Alzheimer disease families linked to 9p21.3.

Züchner S et al.

Annals of Human Genetics, 2008

Characterization of methylthioadenosin phosphorylase (MTAP) expression in malignant melanoma.

Behrmann I et al.

The American Journal of Pathology, 2003

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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."