SWISSVAR
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1 protein found in SwissVar (101 variants)

with gene/protein name Q9P2D1

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)
Q9P2D1 CHD7_HUMAN charge syndrome p.Met41Ile
p.Tyr72Cys
p.Pro86Arg
p.Ala99Pro
p.Val238Met
p.Gln254Glu
p.Pro439Ser
p.Pro558Ala
p.Ser699Gly
p.Ser699Thr
p.Asp728Asn
p.Trp840Cys
p.Glu871Asp
p.Thr894Ala
p.Lys907Thr
p.Thr917Met
p.Arg938Lys
p.Thr942Ala
p.Arg944His
p.Arg947Gln
p.Gly975Arg
p.Leu1020Ser
p.Ile1028Val
p.Trp1031Arg
p.Trp1031Gly
p.Ile1081Ser
p.Thr1082Asn
p.Cys1101Arg
p.Glu1203Gln
p.Val1208Asp
p.Gln1214Arg
p.Cys1251Arg
p.Leu1257Arg
p.Leu1292Pro
p.Leu1294Pro
p.Leu1302Pro
p.Arg1317Cys
p.Cys1318Arg
p.Leu1322Pro
p.Arg1345His
p.Arg1345Cys
p.Gln1395His
p.Thr1416Arg
p.Lys1457Gln
p.Phe1576Cys
p.Arg1592Trp
p.Gly1617Ser
p.Gly1617Asp
p.Gly1619Val
p.Gly1684Ser
p.Leu1739Arg
p.Val1742Asp
p.Leu1745Pro
p.Asp1791Glu
p.Gly1797Val
p.Gly1802Asp
p.Asp1812His
p.Asp1812Gly
p.Leu1815Pro
p.Asp1866Gly
p.Ala1950Thr
p.Arg2065Ser
p.Arg2065His
p.Leu2074Pro
p.Ser2084Gly
p.Trp2091Arg
p.His2096Arg
p.Asp2097Gly
p.Val2102Ile
p.Gly2103Asp
p.Gly2108Trp
p.Gly2108Arg
p.Ile2116Asn
p.Ala2259Thr
p.Gly2286Ala
p.Lys2312Thr
p.Arg2319Cys
p.Arg2319Ser
p.Leu2366Arg
p.Arg2418Gly
p.Lys2464Glu
p.Arg2495Ser
p.Pro2683Ser
p.Arg2702Cys
p.Ala2733Thr
p.Val2931Met






















































































Q9P2D1 CHD7_HUMAN idiopathic scoliosis 3
Q9P2D1 CHD7_HUMAN hypogonadotropic hypogonadism 5 with or without anosmia p.His55Arg
p.Arg758His
p.Ser834Phe
p.Arg886Trp
p.Arg944Ser
p.Asn1030Ser
p.Lys1291Glu
p.Arg1345Cys
p.Leu1375Phe
p.Gly1684Ser
p.Met1838Val
p.Arg1912Gly
p.Arg2065Cys
p.Leu2074Pro
p.Gly2108Arg
p.Ala2259Thr
p.Arg2398Gly
p.Gln2833Pro
p.Pro2880Leu
p.Lys2948Glu