SWISSVAR

1 protein found in SwissVar (165 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 p.Val11Ala
p.Ile21Val
p.Cys64Tyr
p.Tyr105Cys
p.Ser153Arg
p.His239Arg
p.Gly275Ser
p.Gln356Arg
p.Ile379Met
p.Arg507Ile
p.Asn656Ile
p.Asp693Asn
p.Asn723Asp
p.Val772Ala
p.Lys820Glu
p.Arg866Cys
p.Pro871Leu
p.Ile925Leu
p.Phe989Ser
p.Met1008Ile
p.Glu1038Gly
p.Ser1040Asn
p.Glu1060Ala
p.Lys1183Arg
p.Glu1219Asp
p.Glu1250Lys
p.Arg1347Gly
p.Lys1406Asn
p.Ser1431Pro
p.Arg1443Gln
p.Ser1512Ile
p.Ser1613Gly
p.Thr1620Ala
p.Ala1623Gly
p.Met1628Val
p.Pro1637Leu
p.Met1652Ile
p.Phe1662Cys
p.Val1665Met
p.Thr1685Ile
p.Val1713Gly









































P38398 BRCA1_HUMAN sporadic breast cancer p.Tyr856His
p.Met1628Thr
p.Lys1690Gln



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.Ser1140Gly
p.Ser1140Asn
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.Arg1699Trp
p.Arg1699Gln
p.Gly1706Glu
p.Gly1706Ala
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.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.Leu1786Pro










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










P38398 BRCA1_HUMAN pancreatic cancer 4