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1 protein found in SwissVar (123 variants)

with gene/protein name P38398

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)
P38398 BRCA1_HUMAN breast cancer p.Ser4Phe
p.Glu10Lys
p.Met18Thr
p.Leu22Ser
p.Glu23Lys
p.Leu30Phe
p.Lys45Gln
p.Cys61Gly
p.Cys64Gly
p.Asp67Tyr
p.Arg71Lys
p.Asn132Lys
p.Pro142His
p.Leu147Phe
p.Leu165Pro
p.Arg170Trp
p.Ser186Tyr
p.Val191Ile
p.Thr231Met
p.Asp245Val
p.Leu246Val
p.Val271Met
p.Val271Leu
p.Pro346Ser
p.Phe461Leu
p.Tyr465Asp
p.Gly552Val
p.Leu668Phe
p.Asp695Asn
p.Asp749Tyr
p.Leu758Phe
p.Gly778Cys
p.Pro798Leu
p.Asn810Tyr
p.Thr826Lys
p.Arg841Gln
p.Arg866Gln
p.His888Tyr
p.Leu892Ser
p.Gly960Asp
p.Thr1025Ile
p.Val1047Ala
p.Ser1101Asn
p.Ser1139Ile
p.Ser1140Asn
p.Ser1140Gly
p.Pro1150Ser
p.Ser1187Ile
p.Gln1200His
p.Arg1204Ile
p.Lys1207Asn
p.Glu1210Gly
p.Glu1214Lys
p.Ser1217Tyr
p.Asn1236Lys
p.Leu1267Ser
p.Glu1282Val
p.Ser1297Pro
p.Ser1301Arg
p.Glu1346Lys
p.Val1378Ile
p.Met1400Val
p.Leu1407Pro
p.Met1411Thr
p.Arg1443Gly
p.Ser1448Gly
p.Ser1486Cys
p.Arg1495Met
p.Val1534Met
p.Thr1561Ile
p.Arg1589Pro
p.Lys1606Glu
p.Ser1651Phe
p.Ser1651Pro
p.Ser1655Phe
p.Thr1685Ala
p.His1686Gln
p.His1686Arg
p.Met1689Arg
p.Thr1691Ile
p.Arg1699Gln
p.Arg1699Trp
p.Gly1706Ala
p.Gly1706Glu
p.Ala1708Glu
p.Ser1715Arg
p.Trp1718Cys
p.Thr1720Ala
p.Glu1735Lys
p.Val1736Ala
p.Gly1738Arg
p.Asp1739Gly
p.Asp1739Val
p.His1746Gln
p.Arg1753Thr
p.Leu1764Pro
p.Ile1766Ser
p.Cys1767Ser
p.Gly1770Val
p.Met1775Lys
p.Met1775Arg
p.Leu1780Pro
p.Trp1782Cys
p.Gly1788Val
p.Ala1789Thr
p.Glu1794Asp
p.Val1804Asp
p.Pro1812Arg
p.Trp1837Arg
p.His1862Leu














































































































P38398 BRCA1_HUMAN breast-ovarian cancer, familial, 1 p.Glu10Lys
p.Glu23Lys
p.His835Tyr
p.Arg841Trp
p.Ser1187Ile
p.Gln1200His
p.Ser1217Tyr
p.Phe1226Leu
p.Arg1243Gly
p.Leu1780Pro
p.Leu1786Pro











P38398 BRCA1_HUMAN ovarian cancer p.Cys61Gly
p.Glu227Lys
p.Met1411Thr
p.Met1628Val
p.Ala1641Pro
p.Asp1692Asn
p.Cys1697Arg
p.Arg1699Trp
p.Pro1749Arg
p.Pro1776Ser
p.Leu1780Pro
p.Pro1812Ser












P38398 BRCA1_HUMAN pancreatic cancer 4