SWISSVAR

1 protein found in SwissVar (20 variants)

with gene/protein name P01241

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)
P01241 SOMA_HUMAN p.Ser105Cys
p.Val136Ile
1A22A (79)
1AXIA (110)
P01241 SOMA_HUMAN short stature p.Cys79Ser
p.Ile205Met
1HUWA (53)
1A22A (179)
P01241 SOMA_HUMAN isolated growth hormone deficiency p.Thr3Ala

P01241 SOMA_HUMAN growth hormone deficiency, isolated, 1a
P01241 SOMA_HUMAN growth hormone deficiency, isolated, 1b p.Leu16Pro
p.Asp37Asn
p.Arg42Cys
p.Thr53Ile
p.Lys67Arg
p.Asn73Asp
p.Ser97Phe
p.Glu100Lys
p.Gln117Leu
p.Ser134Cys
p.Ser134Arg
p.Thr201Ala

1HWGA (11)
1A22A (16)
1KF9D (1027)
1A22A (41)
1A22A (47)
1A22A (71)
1A22A (74)
1AXIA (91)
1A22A (108)
1A22A (108)
1A22A (175)
P01241 SOMA_HUMAN kowarski syndrome p.Arg103Cys
p.Asp138Gly
1HWHA (77)
1A22A (112)
P01241 SOMA_HUMAN growth hormone deficiency, isolated, 2 p.Arg209His
1AXIA (183)