Q20* (p.Gln20Ter) variant of GATA2 (P23769)

Name: GATA2 Q20* (p.Gln20Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-18
License: https://catvariant.com/terms-of-use

Q20* (p.Gln20Ter) in GATA2 (P23769) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Q20* (p.Gln20Ter) variant details

p.Gln20Ter
rs2107673689
ClinGen CA354409121
ClinVar RCV001542101
ClinVar RCV005429354
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)