Y40* (p.Tyr40Ter) variant of CA2 (Carbonic anhydrase 2)

Name: CA2 Y40* (p.Tyr40Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

Y40* (p.Tyr40Ter) in CA2 (Carbonic anhydrase 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Y40* (p.Tyr40Ter) variant details

p.Tyr40Ter
rs118203934
ClinGen CA114626
ClinVar RCV000000967
Ensembl rs118203934
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: Pathogenic
Structural context available
Cited in: Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT-->TAG) at Tyr-40 in exon 2… (PMID 7627193)
Cited in: Carbonic anhydrase II deficiency in three unrelated Japanese patients. (PMID 8127074)