E13R (p.Glu13Arg) variant of MAX (Protein max)

Name: MAX E13R (p.Glu13Arg) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

E13R (p.Glu13Arg) in MAX (Protein max) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

E13R (p.Glu13Arg) variant details

p.Glu13Arg
rs2504510600
ClinGen CA2697553970
ClinVar RCV003518148
Pathogenic
Missense
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)