SWISSVAR
Home  |  Contact

1 protein found in SwissVar (26 variants)

with gene/protein name O14746

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
O14746 TERT_HUMAN cell immortalization and cancer cell pathogenesis
O14746 TERT_HUMAN aplastic anemia p.Ala202Thr
p.His412Tyr
p.Lys570Asn
p.Arg631Gln
p.Gly682Asp
p.Val694Met
p.Thr726Met
p.Pro785Leu








O14746 TERT_HUMAN coronary artery disease
O14746 TERT_HUMAN dyskeratosis congenita, autosomal dominant, 2 p.Lys902Asn
p.Arg979Trp
p.Phe1127Leu



O14746 TERT_HUMAN pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 p.Val170Met
p.Ala202Thr
p.His412Tyr
p.Val694Met
p.Ala716Thr
p.Tyr772Cys
p.Val791Ile
p.Leu841Phe
p.Arg865His
p.Val867Met
p.Lys902Arg
p.Pro923Leu
p.Val1025Phe
p.Val1090Met














O14746 TERT_HUMAN dyskeratosis congenita, autosomal recessive, 4 p.His412Tyr
p.Pro704Ser
p.Pro721Arg
p.Arg811Cys
p.Arg901Trp





O14746 TERT_HUMAN pulmonary fibrosis, idiopathic
O14746 TERT_HUMAN melanoma, cutaneous malignant 9