SWISSVAR
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1 protein found in SwissVar (43 variants)

with gene/protein name O14896

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)
O14896 IRF6_HUMAN van der woude syndrome 1 p.Ala2Val
p.Arg6Cys
p.Ala16Val
p.Val18Met
p.Val18Ala
p.Leu22Pro
p.Pro39Ala
p.Arg45Gln
p.Ala61Gly
p.Thr64Ile
p.Gly70Arg
p.Pro76Ser
p.Arg84Gly
p.Asn88His
p.Ser90Gly
p.Asp98His
p.Thr100Ala
p.Arg250Gln
p.Leu251Pro
p.Gln273Arg
p.Leu294Pro
p.Val297Ile
p.Lys320Glu
p.Val321Met
p.Gly325Glu
p.Arg339Ile
p.Leu345Pro
p.Cys347Phe
p.Glu349Val
p.Phe369Ser
p.Cys374Trp
p.Lys388Glu
p.Pro396Ser
p.Arg400Trp


































O14896 IRF6_HUMAN popliteal pterygium syndrome p.Leu22Pro
p.Trp60Gly
p.Lys66Thr
p.Gln82Lys
p.Arg84Cys
p.Arg84Leu
p.Arg84His
p.Lys89Glu
p.Ser424Leu
p.Asp430Asn










O14896 IRF6_HUMAN non-syndromic orofacial cleft 6 p.Phe369Ser