SWISSVAR
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1 protein found in SwissVar (12 variants)

with gene/protein name Q16394

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)
Q16394 EXT1_HUMAN hereditary multiple exostoses 1 p.Gln27Lys
p.Asp164His
p.Arg280Gly
p.Arg280Ser
p.Gly339Asp
p.Arg340Ser
p.Arg340Leu
p.Arg340Cys
p.Arg340His
p.Ala486Val
p.Pro496Leu











Q16394 EXT1_HUMAN tricho-rhino-phalangeal syndrome 2
Q16394 EXT1_HUMAN chondrosarcoma p.Asn316Ser