Q19* (p.Gln19Ter) variant of MAX (Protein max)

Name: MAX Q19* (p.Gln19Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

Q19* (p.Gln19Ter) in MAX (Protein max) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Q19* (p.Gln19Ter) variant details

p.Gln19Ter
rs2139963878
ClinGen CA390038728
ClinVar RCV001389671
ClinVar RCV003136061
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)
Cited in: The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine… (PMID 20664475)