R13* (p.Arg13Ter) variant of BTK (Tyrosine-protein kinase BTK)
R13* (p.Arg13Ter) in BTK (Tyrosine-protein kinase BTK) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
R13* (p.Arg13Ter) variant details
- p.Arg13Ter
- rs128620187
- ClinGen CA255788
- NCI-TCGA Cosmic COSV5811
- cosmic curated COSV58118
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.774
- Cited in: Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. (PMID 7849697)
- Cited in: X-Linked Agammaglobulinemia. (PMID 20301626)