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The Project

Rational Intervention for KCNQ2/3 Epileptic Encephalopathy

KCNQ2 Variant Database

How to Use the Database

KCNQ3 Variant Database

Browse Variant List:

Click on a DNA or protein variant below to learn more. Use the browser "Ctrl F" or "search" function on your browser to find a variant.

DNA - Protein

c.(?_-177)_690+?del - p.0?

c.1A>G - p.Met1?

c.1-?c.993+?del - p.?

c.2T>C - p.Met1?

c.63_66delGGTG - p.Val22AlafsTer18

c.204_205insC - p.Lys69GlnfsTer50

c.232delC - p.Gln78ArgfsTer54

c.296+1G>A - p.Val99?

c.297-2A>G - p.Val99?

c.314_316delCCT - p.Ser105del

c.333_334delGT - p.Ser113HisfsTer6

c.340A>G - p.Thr114Ala

c.341C>T - p.Thr114Ile

c.346_348delAAG - p.Lys116del

c.356A>G - p.Glu119Gly

c.365C>T - p.Ser122Leu

c.387+1G>T - p.Leu129?

c.388-2_388delAGG - p.Glu130?

c.431G>A - p.Arg144Gln

c.460T>G - p.Tyr154Asp

c.475G>A - p.Gly159Arg

c.471G>A - p.Trp157Ter

c.474-940_c.1424+1582del - p.?

c.476G>A - p.Gly159Arg

c.566G>T - p.Gly189Val

c.523G>C - p.Val175Leu

c.565-682_c.1295+?del - p.?

c.565-?_c.1478+?(2) - p.?

c.584_593delCTGCGCTCCGinsA - p.Ser195Ter

c.583T>C - p.Ser195Pro

c.585_586insT - p.Ala196CysfsTer66

c.587C>T - p.Ala196Val

c.592_594delCGGinsA - p.Arg198LysfsTer63

c. [587C>T:590T>C] - p.[Ala196Val:Leu197Pro]

c.601C>T - p.Arg201Cys

c.602G>A - p.Arg201His

c.635A>G - p.Asp212Gly

c.629G>A - p.Arg210His

c.622A>G - p.Met208Val

c.628C>T - p.Arg210Cys

c.619C>T - p.Arg207Trp

c.620G>A - p.Arg207Gln

c.610C>T - p.Gly204Ter

c.613A>G - p.Ile205Val

c.608T>C - p.Leu203Pro

c.638G>A - p.Arg213Gln

c.640C>T - p.Arg214Trp

c.643G>A - p.Gly215Arg

c.649A>G - p.Thr217Ala

c.650C>A - p.Thr217Asn

c.637C>T - p.Arg213Trp

c.684C>A - p.His228Gln

c.700A>C - p.Thr234Pro

c.727C>T - p.Leu243Phe

c.740C>G - p.Ser247Trp

c.740C>A - p.Ser247Ter

c.715G>C - p.Gly239Arg

c.749T>G - p.Val250Gly

c.757G>A - p.Ala253Thr

c.773A>G - p.Asn258Ser

c.766G>T - p.Gly256Trp

c.793G>A - p.Ala265Thr

c.793G>C - p.Ala265Pro

c.794C>T - p.Ala265Val

c.802C>T - p.Leu268Phe

c.807G>A - p.Trp269Ter

c.812G>T - p.Gly271Val

c.821C>T - p.Thr274Met

c.827C>T - p.Thr276Ile

c.835G>T - p.Gly279Cys

c.836G>A - p.Gly279Ser

c.841G>A - p.Gly281Arg

c.841G>T - p.Gly281Trp

c.847_848insGT - p.Lys283SerfsTer36

c.851A>G - p.Tyr284Cys

c.854C>A - p.Pro285His

c.860C>A - p.Thr287Asn

c.868G>A - p.Gly290Ser

c.881C>G - p.Ala294Gly

c.869G>A - p.Gly290Asp

c.881C>T - p.Ala294Val

c.886A>C - p.Thr296Pro

c.901G>A - p.Gly301Ser

c.911T>C - p.Phe304Ser

c.910_912delTTT/C or c.913_915delTTC - p.Phe305del

c.915C>A - p.Phe305Leu

c.916G>A - p.Ala306Thr

c.917C>T - p.Ala306Val

c.926C>T - p.Ala309Val

c.928-1G>C - p.Gly310?

c.939_940insG - p.Ser314ValfsTer16

c.943G>C - p.Gly315Arg

c.973A>G - p.Arg325Gly

c.967C>T - p.Gln323Ter

c.997C>T - p.Arg333Trp

c.1030T>C - p.Trp344Arg

c.1024-2A>G - p.Ser342?

c.1016T>G - p.Leu339Arg

c.1010C>G - p.Ala337Gly

c.998G>A - p.Arg333Gln

c.1051C>G - p.Leu351Val

c.1051C>T - p.Leu351Phe

c.1053C>T - p.Leu351Leu

c.1054T>C - p.Ser352Pro

c.1057C>G - p.Arg353Gly

c.1058G>A - p.Arg353His

c.1066C>G - p.Leu356Val

c.1073C>T - p.Ser358Phe

c.1076C>A - p.Thr359Lys

c.1085A>G - p.Tyr362Cys

c.1118+1G>A - p.Ser373?

c.1118+3A>G - p.Ser373?

c.1119-?_(*382)del - p.?

c.1192_1193delAA - p.Lys398GlufsTer1

c.1148+2T>G - p.Arg383?

c.1126delA - p.Thr376LeufsTer12

c.1195_1196delAG - p.Ser399Ter

c.1342C>T - p.Arg448Ter

c.1302-1G>C - p.Ser434?

c.1259C>T - p.Pro420Met

c.1247+1G>A - p.Ser416?

c.1246A>C - p.Ser416ArgTer57

c.1229? - p.Pro410fsTer12

c.1217+2T>G - p.Arg406?

c.1203T>C - p.Ser401Ser

c.1501G>C - p.Ala501Pro

c.1481? - p.Gln494fs

c.1479-768_c.1940+579del3018bp - p.?

c.1418_1419delTC - p.Leu473ArgfsTer47

c.1382A>C - p.Gln461Pro

c.1525+1G>A - p.Glu509?

c.1545G>C - p.Glu515Asp

c.1569_1581delCCCCTGCGAGTTT - p.Cys523TrpfsTer1

c.1602G>A - p.Pro534Pro

c.1609A>T - p.Lys537Ter

c.1621A>G - p.Arg541Gly

c.1631+1G>A - p.Cys544?

c.1632-1G>T - p.Cys544?

c.1636A>G - p.Met546Val

c.1655A>C - p.Lys552Thr

c.1639C>T - p.Arg547Trp

c.1657C>T - p.Arg553Trp

c.1658G>A - p.Arg553Gln

c.1658G>T - p.Arg553Leu

c.1662G>C/T - p.Lys554Asn

c.1666A>G - p.Lys556Glu

c.1678C>T - p.Arg560Trp

c.1684_1685dupGCCCT - p.Tyr562CysfsTer4

c.1682C>T - p.Pro561Leu

c.1687G>A - p.Asp563Asn

c.1689C>G - p.Asp563Glu

c.1689C>T - p.Asp563Asp

c.1732A>G - p.Met578Val

c.1734G>C - p.Met578Ile

c.[1734G>A:1735C>A] - p.[Met578Ile:Leu579Met]

c.1741C>G - p.Arg581Gly

c.1741C>T - p.Arg581Ter

c.1764A>T - p.Arg588Ser

c.1764-2A>G - p.Arg588?

c.1764-?_(*455_?)del - p.?

c.1764-6C>A - p.Arg588fsTer1

c.1783C>T - p.Arg595Trp

c.1776C>G - p.Ile592Met

c.1930delT - p.Tyr644ThrfsTer285

c.1910T>G - p.Leu637Arg

c.1887+5G>A - p.Gln629?

c.1856_1886del31bp - p.Met619ArgfsTer13

c.1956G>A - p.Pro652Pro

c.1956delG - p.Thr653GlnfsTer276

c.2127delT - p.Pro710SerfsTer219

c.2015delG - p.Ser672ThrfsTer257

c.2318_2319dupG - p.Cys774LeufsTer90

c.2597delG - p.Cys866AlafsTer63

c.2599_2603dupTGGGC - p.Arg871GlyfsTer60

c.2606_2610dupGGGCC - p.Arg871GlyfsTer60

c.2613G>T - p.Arg871Ser

Last Updated: 12/02/2015

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