Home > Gene Browser > ANXA11

ANXA11

Synonyms
ALS23, ANX11, CAP-50, CAP50
External resources
Summary
This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
15,145
Likely benign
1,756
Benign
4,566

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ANXA11 gene.

Phenotype class
Patients in 3billion (%)

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