Disease variant

Protein List

ID name Taxonomy Function
A0A1B0GTW7 CIROP Homo sapiens Ciliated left-right organizer metallopeptidase
A0AVF1 IFT56 Homo sapiens Intraflagellar transport protein 56
A0PJY2 FEZF1 Homo sapiens Fez family zinc finger protein 1
A0PK11 CLRN2 Homo sapiens Clarin-2
A1X283 SH3PXD2B Homo sapiens SH3 and PX domain-containing protein 2B
A1XBS5 CIBAR1 Homo sapiens CBY1-interacting BAR domain-containing protein 1
A2PYH4 HFM1 Homo sapiens Probable ATP-dependent DNA helicase HFM1
A2RRP1 NBAS Homo sapiens NBAS subunit of NRZ tethering complex
A2RU14 TMEM218 Homo sapiens Transmembrane protein 218
A3KMH1 VWA8 Homo sapiens von Willebrand factor A domain-containing protein 8
A4D126 CRPPA Homo sapiens D-ribitol-5-phosphate cytidylyltransferase
A5YKK6 CNOT1 Homo sapiens CCR4-NOT transcription complex subunit 1
A6NCS4 NKX2-6 Homo sapiens Homeobox protein Nkx-2.6
A6NFY7 SDHAF1 Homo sapiens Succinate dehydrogenase assembly factor 1, mitochondrial
A6NGG8 PCARE Homo sapiens Photoreceptor cilium actin regulator
A6NHR9 SMCHD1 Homo sapiens Structural maintenance of chromosomes flexible hinge domain-containing protein 1
A6NI61 MYMK Homo sapiens Protein myomaker
A6NK58 LIPT2 Homo sapiens Octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial
A6NNB3 IFITM5 Homo sapiens Interferon-induced transmembrane protein 5
A6NNN8 SLC38A8 Homo sapiens Solute carrier family 38 member 8
A6NNY8 USP27X Homo sapiens Ubiquitin carboxyl-terminal hydrolase 27
A8MTJ6 FOXI3 Homo sapiens Forkhead box protein I3
A8MXD5 GRXCR1 Homo sapiens Glutaredoxin domain-containing cysteine-rich protein 1
A8MYU2 KCNU1 Homo sapiens Potassium channel subfamily U member 1
B0YJ81 HACD1 Homo sapiens Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1
B1AK53 ESPN Homo sapiens Espin
B2RTY4 MYO9A Homo sapiens Unconventional myosin-IXa
B2RXF5 ZBTB42 Homo sapiens Zinc finger and BTB domain-containing protein 42
B7U540 KCNJ18 Homo sapiens Inward rectifier potassium channel 18
C9JE40 PATL2 Homo sapiens Protein PAT1 homolog 2
C9JR72 KBTBD13 Homo sapiens Kelch repeat and BTB domain-containing protein 13
D6RGH6 MCIDAS Homo sapiens Multicilin
O00115 DNASE2 Homo sapiens Deoxyribonuclease-2-alpha
O00116 AGPS Homo sapiens Alkyldihydroxyacetonephosphate synthase, peroxisomal
O00139 KIF2A Homo sapiens Kinesin-like protein KIF2A