Disease variant

Protein List

ID name Taxonomy Function
O00623 PEX12 Homo sapiens Peroxisome assembly protein 12
O00628 PEX7 Homo sapiens Peroxisomal targeting signal 2 receptor
O00712 NFIB Homo sapiens Nuclear factor 1 B-type
O00744 WNT10B Homo sapiens Protein Wnt-10b
O00754 MAN2B1 Homo sapiens Lysosomal alpha-mannosidase
O00755 WNT7A Homo sapiens Protein Wnt-7a
O00757 FBP2 Homo sapiens Fructose-1,6-bisphosphatase isozyme 2
O00764 PDXK Homo sapiens Pyridoxal kinase
O14521 SDHD Homo sapiens Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
O14526 FCHO1 Homo sapiens F-BAR domain only protein 1
O14529 CUX2 Homo sapiens Homeobox protein cut-like 2
O14578 CIT Homo sapiens Citron Rho-interacting kinase
O14593 RFXANK Homo sapiens DNA-binding protein RFXANK
O14646 CHD1 Homo sapiens ATP-dependent chromatin remodeler CHD1
O14647 CHD2 Homo sapiens ATP-dependent chromatin remodeler CHD2
O14649 KCNK3 Homo sapiens Potassium channel subfamily K member 3
O14653 GOSR2 Homo sapiens Golgi SNAP receptor complex member 2
O14654 IRS4 Homo sapiens Insulin receptor substrate 4
O14656 TOR1A Homo sapiens Torsin-1A
O14672 ADAM10 Homo sapiens Disintegrin and metalloproteinase domain-containing protein 10
O14678 ABCD4 Homo sapiens Lysosomal cobalamin transporter ABCD4
O14681 EI24 Homo sapiens Etoposide-induced protein 2.4 homolog
O14686 KMT2D Homo sapiens Histone-lysine N-methyltransferase 2D
O14745 NHERF1 Homo sapiens Na(+)/H(+) exchange regulatory cofactor NHE-RF1
O14746 TERT Homo sapiens Telomerase reverse transcriptase
O14757 CHEK1 Homo sapiens Serine/threonine-protein kinase Chk1
O14764 GABRD Homo sapiens Gamma-aminobutyric acid receptor subunit delta
O14770 MEIS2 Homo sapiens Homeobox protein Meis2
O14773 TPP1 Homo sapiens Tripeptidyl-peptidase 1
O14775 GNB5 Homo sapiens Guanine nucleotide-binding protein subunit beta-5
O14787 TNPO2 Homo sapiens Transportin-2
O14788 TNFSF11 Homo sapiens Tumor necrosis factor ligand superfamily member 11
O14791 APOL1 Homo sapiens Apolipoprotein L1
O14802 POLR3A Homo sapiens DNA-directed RNA polymerase III subunit RPC1
O14807 MRAS Homo sapiens Ras-related protein M-Ras