SWISSVAR

1 protein found in SwissVar (74 variants)

with gene/protein name P41180

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)
P41180 CASR_HUMAN primary hyperparathyroidism detected at adulthood p.Gln27Arg
p.Thr100Ile
p.Leu650Pro
p.Val689Met




P41180 CASR_HUMAN p.Thr14Ala
p.Glu250Lys
p.Pro339Thr
p.Cys851Ser
p.Phe881Leu
p.Pro951Thr
p.Ala986Ser
p.Arg990Gly
p.Gln1011Glu









P41180 CASR_HUMAN hypocalciuric hypercalcemia, familial 1 p.Leu11Ser
p.Leu13Pro
p.Gly21Arg
p.Pro39Ala
p.Arg62Met
p.Arg66Cys
p.Thr138Met
p.Gly143Glu
p.Ser171Asn
p.Leu174Arg
p.Phe180Cys
p.Arg185Gln
p.Pro221Gln
p.Lys225Thr
p.Arg227Gln
p.Ser271Phe
p.Glu297Lys
p.Gly397Arg
p.Arg465Gln
p.Gly509Arg
p.Gly553Arg
p.Ile555Val
p.Gly557Glu
p.Cys562Tyr
p.Cys582Phe
p.Gly623Asp
p.Gly670Arg
p.Val697Met
p.Val728Phe
p.Trp742Arg
p.Arg795Trp
p.Arg886Trp
































P41180 CASR_HUMAN hyperparathyroidism, neonatal severe p.Arg62Met
p.Arg227Leu
p.Glu297Lys
p.Cys582Tyr
p.Gly670Glu





P41180 CASR_HUMAN hypocalcemia, autosomal dominant 1 p.Lys47Asn
p.Ala116Thr
p.Asn118Lys
p.Leu125Pro
p.Glu127Ala
p.Phe128Leu
p.Cys131Trp
p.Thr151Met
p.Glu191Lys
p.Glu604Lys
p.Phe612Ser
p.Leu616Val
p.Gln681His
p.Leu727Gln
p.Glu767Lys
p.Leu773Arg
p.Phe788Cys
p.Phe788Leu
p.Phe806Ser
p.Ser820Phe
p.Ala843Glu





















P41180 CASR_HUMAN epilepsy, idiopathic generalized 8 p.Glu354Ala
p.Ile686Val
p.Arg898Gln
p.Ala988Val
p.Ala988Gly





P41180 CASR_HUMAN primary hyperparathyroidism in adulthood