SWISSVAR

1 protein found in SwissVar (42 variants)

with gene/protein name Q9HBA0

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)
Q9HBA0 TRPV4_HUMAN p.Pro19Ser

Q9HBA0 TRPV4_HUMAN brachyolmia 3 p.Arg616Gln
p.Val620Ile


Q9HBA0 TRPV4_HUMAN spondylometaphyseal dysplasia kozlowski type p.Glu278Lys
p.Asp333Gly
p.Arg594His
p.Leu596Pro
p.Gly600Trp
p.Met625Ile
p.Leu709Met
p.Ala716Ser
p.Cys777Tyr
p.Glu797Lys










Q9HBA0 TRPV4_HUMAN metatropic dysplasia p.Thr89Ile
p.Lys197Arg
p.Leu199Phe
p.Thr295Ala
p.Ile331Thr
p.Ile331Phe
p.Val342Phe
p.Phe592Leu
p.Ile604Met
p.Phe617Leu
p.Leu618Pro
p.Arg775Lys
p.Glu797Lys
p.Pro799Leu
p.Pro799Ala
p.Pro799Arg
p.Pro799Ser

















Q9HBA0 TRPV4_HUMAN distal spinal muscular atrophy, congenital non-progressive p.Pro97Arg
p.Arg232Cys
p.Arg269His



Q9HBA0 TRPV4_HUMAN charcot-marie-tooth disease 2c p.Arg232Cys
p.Arg269His
p.Arg269Cys
p.Arg315Trp
p.Arg316His
p.Arg316Cys
p.Ser542Tyr







Q9HBA0 TRPV4_HUMAN scapuloperoneal spinal muscular atrophy p.Arg316Cys

Q9HBA0 TRPV4_HUMAN spondyloepiphyseal dysplasia maroteaux type p.Glu183Lys
p.Tyr602Cys


Q9HBA0 TRPV4_HUMAN parastremmatic dwarfism p.Arg594His

Q9HBA0 TRPV4_HUMAN digital arthropathy-brachydactyly, familial p.Gly270Val
p.Arg271Pro
p.Phe273Leu