https://www.ncbi.nlm.nih.gov/Structure/cdd/pfam12297
CDD Conserved Protein Domain Family: EVC2_like
pfam12297 (PSSM ID: 520188): Conserved Protein Domain Family EVC2_like, This family of proteins is found in eukaryotes
conserved proteincdddomainfamilyevc2
https://www.ncbi.nlm.nih.gov/clinvar/RCV003060381/
NM_147127.5(EVC2):c.3395CT (p.Ala1132Val) AND multiple conditions - ClinVar - NCBI
ClinVar archives and aggregates information about relationships among variation and human health.