E121* (p.Glu121Ter) variant of TULP1 (Tubby-related protein 1)

Name: TULP1 E121* (p.Glu121Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

E121* (p.Glu121Ter) in TULP1 (Tubby-related protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.

E121* (p.Glu121Ter) variant details

p.Glu121Ter
rs1581744084
ClinGen CA363783402
ClinVar RCV000787892
Ensembl rs1581744084
Likely pathogenic
Stop Gained
EBI: Likely pathogenic
UniProt: Likely pathogenic
Structural context available
Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)