SWISSVAR
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1 protein found in SwissVar (37 variants)

with gene/protein name Q07889

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)
Q07889 SOS1_HUMAN fibromatosis, gingival, 1
Q07889 SOS1_HUMAN noonan syndrome 4 p.Pro102Arg
p.Glu108Lys
p.Pro112Arg
p.Lys170Glu
p.Ile252Thr
p.Thr266Lys
p.Met269Thr
p.Met269Arg
p.Asp309Tyr
p.Tyr337Cys
p.Met422Val
p.Glu424Lys
p.Trp432Arg
p.Glu433Lys
p.Gly434Lys
p.Gly434Arg
p.Ile437Thr
p.Cys441Tyr
p.Gln477Arg
p.Pro478Arg
p.Gly482Arg
p.Leu490Arg
p.Arg497Gln
p.Ser548Arg
p.Thr549Lys
p.Leu550Pro
p.Arg552Ser
p.Arg552Lys
p.Arg552Thr
p.Arg552Gly
p.Arg552Met
p.Phe623Ile
p.Tyr702His
p.Trp729Leu
p.Ile733Phe
p.Glu846Lys
p.Pro894Arg