PRO Term |
GO Annotation |
Evidence |
PR:000000803 hKCNV2/var:G459D UniProtKB:Q8TDN2, Gly-459, CHEBI:29958 | voltage-gated potassium channel KCNV2 sequence variant 1 (human) |
associated_with_disease_progression | DO:0050795 cone dystrophy |
PMID:16909397 |
PR:000000804 hKCNV2/var:A259V UniProtKB:Q8TDN2, Ala-259, CHEBI:30015 | voltage-gated potassium channel KCNV2 sequence variant 2 (human) |
associated_with_disease_progression | DO:0050795 cone dystrophy |
PMID:16909397 |
PR:000000805 hKCNV2/var:L126Q UniProtKB:Q8TDN2, Leu-126, CHEBI:30011 | voltage-gated potassium channel KCNV2 sequence variant 3 (human) |
associated_with_disease_progression | DO:0050795 cone dystrophy |
PMID:16909397 |
PR:000000806 hKCNV2/var:4 UniProtKB:Q8TDN2, 1-338, 342-545 |
associated_with_disease_progression | DO:0050795 cone dystrophy |
PMID:16909397 |
PR:000000807 hKCNV2/var:S256W UniProtKB:Q8TDN2, Ser-256, CHEBI:29954 | voltage-gated potassium channel KCNV2 sequence variant 5 (human) |
associated_with_disease_progression | DO:0050795 cone dystrophy |
PMID:16909397 |
PR:000000808 hKCNV2/var:W188C UniProtKB:Q8TDN2, Trp-188, CHEBI:29950 | voltage-gated potassium channel KCNV2 sequence variant 6 (human) |
associated_with_disease_progression | DO:0050795 cone dystrophy |
PMID:16909397 |