SWISSVAR
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1 protein found in SwissVar (30 variants)

with gene/protein name Q13873

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)
Q13873 BMPR2_HUMAN pulmonary hypertension, primary, 1 p.Cys60Tyr
p.Ser64Arg
p.Tyr67Cys
p.Ile77Leu
p.Gln82His
p.Cys84Phe
p.His87Tyr
p.Gln92Leu
p.Gln109His
p.Cys117Tyr
p.Cys118Trp
p.Cys123Arg
p.Cys123Ser
p.Pro138Ala
p.Ala162Pro
p.Gly182Asp
p.Arg248Gly
p.Asp264Asn
p.Val341Met
p.Cys347Tyr
p.Cys420Arg
p.Lys467Arg
p.Cys483Arg
p.Asp485Gly
p.Arg491Trp
p.Arg491Gln
p.Lys512Thr
p.Asn519Lys
p.Ser863Asn
p.Arg899Pro



















3G2FA (347)
3G2FA (420)

3G2FA (483)
3G2FA (485)
3G2FA (491)
3G2FA (491)
3G2FB (512)



Q13873 BMPR2_HUMAN pulmonary venoocclusive disease 1, autosomal dominant