Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.D74Y
Back to variants list

GSDMB

NM_001165958.2:p.D74Y

Associated Papers

Structural analysis of the impact of germline mutations of p16 in melanoma prone families.

Arun D et al.

Molecular Diversity, 2025

Deletion of RDINK4/ARF enhancer: A novel mutation to "inactivate" the INK4-ARF locus.

Poi MJ et al.

Dna Repair, 2017

CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.

Scaini MC et al.

Human Mutation, 2014

Genetic alterations of RD(INK4/ARF) enhancer in human cancer cells.

Li J et al.

Molecular Carcinogenesis, 2014

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

Kannengiesser C et al.

Human Mutation, 2009

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

Pastorino L et al.

Pigment Cell & Melanoma Research, 2008

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."