SWISSVAR
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1 protein found in SwissVar (13 variants)

with gene/protein name P28069

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)
P28069 PIT1_HUMAN pituitary hormone deficiency, combined, 1 p.Pro24Leu
p.Pro76Leu
p.Phe135Cys
p.Arg143Gln
p.Ala158Pro
p.Arg172Gln
p.Glu174Gly
p.Ser179Arg
p.Trp193Arg
p.Glu230Lys
p.Pro239Ser
p.Arg265Trp
p.Arg271Trp