SWISSVAR
Home  |  Contact

1 protein found in SwissVar (32 variants)

with gene/protein name Q92574

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)
Q92574 TSC1_HUMAN tuberous sclerosis 1 p.Glu51Asp
p.Leu61Arg
p.Leu72Pro
p.Leu117Pro
p.Val126Ile
p.Gly132Asp
p.Val133Ile
p.Leu180Pro
p.Leu191His
p.Met224Arg
p.Arg246Lys
p.Gly305Arg
p.Gly305Trp
p.Arg336Gln
p.Pro362Ser
p.Leu411Ile
p.Thr417Ile
p.Arg500Gln
p.Ala523Pro
p.Gln654Glu
p.Asp693His
p.Leu698Arg
p.Gln701His
p.Ala726Glu
p.Asn762Ser
p.Arg811Gly
p.Ala883Thr
p.Thr899Ser
p.Leu978Val
p.Asp1146Tyr






























Q92574 TSC1_HUMAN lymphangioleiomyomatosis
Q92574 TSC1_HUMAN focal cortical dysplasia 2 p.Arg22Trp
p.Arg204Cys