KCNK6

KCNK6 potassium two pore domain channel subfamily K member 6

Annotation transcript: NM_004823.3

300 unique variant annotations were identified in 213 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
19-38810595-G-A c.5G>A p.R2Q Missense 1/3 - 1
19-38810602-C-A c.12C>A p.G4= Synonymous 1/3 - 1
19-38810602-C-G c.12C>G p.G4= Synonymous 1/3 - 1
19-38810602-C-T c.12C>T p.G4= Synonymous 1/3 - 1
19-38810606-C-CT c.18dup p.L7Sfs*73 Frameshift 1/3 - 1
19-38810618-GCC-ATG c.28_30delinsATG p.A10M Missense 1/3 - 1
19-38810619-C-G c.29C>G p.A10G Missense 1/3 - 1
19-38810626-C-A c.36C>A p.A12= Synonymous 1/3 - 1
19-38810626-C-G c.36C>G p.A12= Synonymous 1/3 - 1
19-38810626-C-T c.36C>T p.A12= Synonymous 1/3 - 1
19-38810649-T-A c.59T>A p.L20Q Missense 1/3 - 1
19-38810657-C-T c.67C>T p.L23= Synonymous 1/3 - 1
19-38810659-G-A c.69G>A p.L23= Synonymous 1/3 - 1
19-38810659-G-C c.69G>C p.L23= Synonymous 1/3 - 1
19-38810659-G-T c.69G>T p.L23= Synonymous 1/3 - 1
19-38810666-GCG-TAT c.76_78delinsTAT p.A26Y Missense 1/3 - 1
19-38810682-C-A c.92C>A p.P31Q Missense 1/3 - 1
19-38810694-G-C c.104G>C p.R35T Missense 1/3 - 1
19-38810700-G-A c.110G>A p.R37Q Missense 1/3 - 10
19-38810700-G-C c.110G>C p.R37P Missense 1/3 - 1
19-38810700-G-T c.110G>T p.R37L Missense 1/3 - 1
19-38810715-C-T c.125C>T p.T42M Missense 1/3 - 1
19-38810717-C-A c.127C>A p.L43M Missense 1/3 - 1
19-38810723-GCG-AAC c.133_135delinsAAC p.A45N Missense 1/3 - 1
19-38810736-A-G c.146A>G p.Q49R Missense 1/3 - 1
19-38810741-A-C c.151A>C p.S51R Missense 1/3 - 2
19-38810743-C-A c.153C>A p.S51R Missense 1/3 - 2
19-38810743-C-G c.153C>G p.S51R Missense 1/3 - 2
19-38810744-C-G c.154C>G p.P52A Missense 1/3 - 8
19-38810753-GC-CG c.163_164delinsCG p.A55R Missense 1/3 - 1
19-38810756-G-T c.166G>T p.A56S Missense 1/3 - 1
19-38810758-C-T c.168C>T p.A56= Synonymous 1/3 - 1
19-38810766-T-C c.176T>C p.L59P Missense 1/3 - 1
19-38810769-A-G c.179A>G p.D60G Missense 1/3 - 1
19-38810771-G-C c.181G>C p.A61P Missense 1/3 - 1
19-38810788-G-A c.198G>A p.V66= Synonymous 1/3 - 1
19-38810788-G-C c.198G>C p.V66= Synonymous 1/3 - 1
19-38810788-G-T c.198G>T p.V66= Synonymous 1/3 - 1
19-38810793-C-A c.203C>A p.A68E Missense 1/3 - 1
19-38810804-C-G c.214C>G p.L72V Missense 1/3 - 1
19-38810813-G-T c.223G>T p.V75F Missense 1/3 - 1
19-38810814-T-G c.224T>G p.V75G Missense 1/3 - 1
19-38810825-AA-CT c.235_236delinsCT p.N79L Missense 1/3 - 1
19-38810832-C-T c.242C>T p.S81L Missense 1/3 - 2
19-38810834-GGG-AGC c.244_246delinsAGC p.G82S Missense 1/3 - 1
19-38810840-G-A c.250G>A p.A84T Missense 1/3 - 2
19-38810841-C-G c.251C>G p.A84G Missense 1/3 - 2
19-38810843-AA-CT c.253_254delinsCT p.N85L Missense 1/3 - 1
19-38810844-A-G c.254A>G p.N85S Missense 1/3 - 2
19-38810850-C-G c.260C>G p.S87W Missense 1/3 - 1
19-38810850-C-T c.260C>T p.S87L Missense 1/3 - 1
19-38810852-G-A c.262G>A p.D88N Missense 1/3 - 1
19-38810855-C-A c.265C>A p.P89T Missense 1/3 - 1
19-38810861-T-G c.271T>G p.W91G Missense 1/3 - 1
19-38810869-C-T c.279C>T p.F93= Synonymous 1/3 - 1
19-38810871-C-T c.281C>T p.A94V Missense 1/3 - 1
19-38810877-C-T c.287C>T p.A96V Missense 1/3 - 3
19-38810880-T-A c.290T>A p.L97H Missense 1/3 - 5
19-38810894-A-G c.304A>G p.T102A Missense 1/3 - 1
19-38810896-G-A c.306G>A p.T102= Synonymous 1/3 - 1
19-38810896-G-C c.306G>C p.T102= Synonymous 1/3 - 1
19-38810896-G-T c.306G>T p.T102= Synonymous 1/3 - 1
19-38810904-C-T c.314C>T p.T105I Missense 1/3 - 1
19-38816952-G-A c.323-281G>A - IntronicSNV - 1/2 1
19-38816976-T-C c.323-257T>C - IntronicSNV - 1/2 2
19-38817110-A-G c.323-123A>G - IntronicSNV - 1/2 5
19-38817232-G-A c.323-1G>A - IntronicSNV - 1/2 1
19-38817239-G-A c.329G>A p.G110E Missense 2/3 - 1
19-38817243-C-A c.333C>A p.Y111* Nonsense 2/3 - 1
19-38817243-C-G c.333C>G p.Y111* Nonsense 2/3 - 1
19-38817245-C-T c.335C>T p.T112I Missense 2/3 - 1
19-38817248-C-T c.338C>T p.T113M Missense 2/3 - 2
19-38817249-G-A c.339G>A p.T113= Synonymous 2/3 - 2
19-38817249-G-C c.339G>C p.T113= Synonymous 2/3 - 1
19-38817249-G-T c.339G>T p.T113= Synonymous 2/3 - 1
19-38817251-CA-AT c.341_342delinsAT p.P114H Missense 2/3 - 1
19-38817256-A-G c.346A>G p.T116A Missense 2/3 - 1
19-38817261-T-A c.351T>A p.D117E Missense 2/3 - 1
19-38817261-T-G c.351T>G p.D117E Missense 2/3 - 1
19-38817262-G-T c.352G>T p.A118S Missense 2/3 - 3
19-38817265-G-T c.355G>T p.G119C Missense 2/3 - 1
19-38817267-C-G c.357C>G p.G119= Synonymous 2/3 - 1
19-38817273-C-A c.363C>A p.A121= Synonymous 2/3 - 1
19-38817273-C-G c.363C>G p.A121= Synonymous 2/3 - 2
19-38817273-C-T c.363C>T p.A121= Synonymous 2/3 - 2
19-38817278-C-T c.368C>T p.S123F Missense 2/3 - 1
19-38817281-T-A c.371T>A p.I124N Missense 2/3 - 3
19-38817290-C-T c.380C>T p.A127V Missense 2/3 - 1
19-38817291-G-T c.381G>T p.A127= Synonymous 2/3 - 2
19-38817294-C-A c.384C>A p.L128= Synonymous 2/3 - 3
19-38817294-C-G c.384C>G p.L128= Synonymous 2/3 - 2
19-38817294-C-T c.384C>T p.L128= Synonymous 2/3 - 2
19-38817296-T-A c.386T>A p.L129Q Missense 2/3 - 1
19-38817299-G-A c.389G>A p.G130D Missense 2/3 - 1
19-38817300-C-A c.390C>A p.G130= Synonymous 2/3 - 2
19-38817300-C-G c.390C>G p.G130= Synonymous 2/3 - 2
19-38817300-C-T c.390C>T p.G130= Synonymous 2/3 - 3
19-38817305-C-T c.395C>T p.P132L Missense 2/3 - 5
19-38817308-C-T c.398C>T p.T133I Missense 2/3 - 1
19-38817317-T-C c.407T>C p.L136P Missense 2/3 - 1
19-38817328-G-A c.418G>A p.A140T Missense 2/3 - 1
19-38817328-G-T c.418G>T p.A140S Missense 2/3 - 1
19-38817329-C-T c.419C>T p.A140V Missense 2/3 - 3
19-38817331-TCA-AAC c.421_423delinsAAC p.S141N Missense 2/3 - 1
19-38817333-A-C c.423A>C p.S141= Synonymous 2/3 - 1
19-38817333-A-G c.423A>G p.S141= Synonymous 2/3 - 1
19-38817333-A-T c.423A>T p.S141= Synonymous 2/3 - 1
19-38817337-C-T c.427C>T p.Q143* Nonsense 2/3 - 1
19-38817340-C-T c.430C>T p.R144C Missense 2/3 - 1
19-38817341-G-A c.431G>A p.R144H Missense 2/3 - 1
19-38817347-C-T c.437C>T p.S146L Missense 2/3 - 5
19-38817349-C-T c.439C>T p.L147= Synonymous 2/3 - 1
19-38817351-G-A c.441G>A p.L147= Synonymous 2/3 - 1
19-38817351-G-C c.441G>C p.L147= Synonymous 2/3 - 1
19-38817351-G-T c.441G>T p.L147= Synonymous 2/3 - 1
19-38817353-T-G c.443T>G p.L148R Missense 2/3 - 1
19-38817355-C-G c.445C>G p.L149V Missense 2/3 - 1
19-38817359-C-G c.449C>G p.T150S Missense 2/3 - 3
19-38817359-C-T c.449C>T p.T150I Missense 2/3 - 8
19-38817363-C-T c.453C>T p.H151= Synonymous 2/3 - 4
19-38817364-G-A c.454G>A p.V152M Missense 2/3 - 2
19-38817377-G-A c.467G>A p.W156* Nonsense 2/3 - 1
19-38817379-C-T c.469C>T p.L157= Synonymous 2/3 - 1
19-38817381-G-A c.471G>A p.L157= Synonymous 2/3 - 1
19-38817381-G-C c.471G>C p.L157= Synonymous 2/3 - 1
19-38817381-G-T c.471G>T p.L157= Synonymous 2/3 - 1
19-38817389-G-T c.479G>T p.R160L Missense 2/3 - 1
19-38817394-G-T c.484G>T p.G162C Missense 2/3 - 3
19-38817399-G-GT c.489_490insT p.D164* Nonsense 2/3 - 1
19-38817401-A-G c.491A>G p.D164G Missense 2/3 - 1
19-38817402-C-T c.492C>T p.D164= Synonymous 2/3 - 1
19-38817405-C-A c.495C>A p.P165= Synonymous 2/3 - 1
19-38817405-C-G c.495C>G p.P165= Synonymous 2/3 - 1
19-38817405-C-T c.495C>T p.P165= Synonymous 2/3 - 1
19-38817410-G-T c.500G>T p.R167L Missense 2/3 - 1
19-38817411-G-T c.501G>T p.R167= Synonymous 2/3 - 2
19-38817413-C-G c.503C>G p.A168G Missense 2/3 - 1
19-38817413-C-T c.503C>T p.A168V Missense 2/3 - 5
19-38817414-G-A c.504G>A p.A168= Synonymous 2/3 - 1
19-38817416-C-A c.506C>A p.A169D Missense 2/3 - 1
19-38817416-C-T c.506C>T p.A169V Missense 2/3 - 1
19-38817419-G-A c.509G>A p.C170Y Missense 2/3 - 1
19-38817420-C-T c.510C>T p.C170= Synonymous 2/3 - 2
19-38817422-G-A c.512G>A p.W171* Nonsense 2/3 - 1
19-38817423-G-A c.513G>A p.W171* Nonsense 2/3 - 1
19-38817432-G-A c.522G>A p.V174= Synonymous 2/3 - 1
19-38817436-C-A c.526C>A p.L176M Missense 2/3 - 1
19-38817436-C-T c.526C>T p.L176= Synonymous 2/3 - 2
19-38817438-G-T c.528G>T p.L176= Synonymous 2/3 - 1
19-38817441-G-C c.531G>C p.L177F Missense 2/3 - 1
19-38817441-G-T c.531G>T p.L177F Missense 2/3 - 1
19-38817447-C-A c.537C>A p.V179= Synonymous 2/3 - 1
19-38817447-C-G c.537C>G p.V179= Synonymous 2/3 - 1
19-38817447-C-T c.537C>T p.V179= Synonymous 2/3 - 2
19-38817448-G-A c.538G>A p.V180I Missense 2/3 - 2
19-38817449-T-C c.539T>C p.V180A Missense 2/3 - 3
19-38817451-G-A c.541G>A p.V181M Missense 2/3 - 1
19-38817456-C-A c.546C>A p.T182= Synonymous 2/3 - 1
19-38817456-C-G c.546C>G p.T182= Synonymous 2/3 - 1
19-38817456-C-T c.546C>T p.T182= Synonymous 2/3 - 2
19-38817457-G-A c.547G>A p.V183I Missense 2/3 - 2
19-38817457-G-T c.547G>T p.V183F Missense 2/3 - 1
19-38817463-T-A c.553T>A p.F185I Missense 2/3 - 1
19-38817466-C-A c.556C>A p.L186M Missense 2/3 - 1
19-38817466-C-G c.556C>G p.L186V Missense 2/3 - 1
19-38817471-GC-G c.563del p.P188Rfs*3 Frameshift 2/3 - 1
19-38817473-C-T c.563C>T p.P188L Missense 2/3 - 1
19-38817480-G-T c.570G>T p.V190= Synonymous 2/3 - 1
19-38817484-T-C c.574T>C p.F192L Missense 2/3 - 1
19-38817486-T-A c.576T>A p.F192L Missense 2/3 - 1
19-38817486-T-G c.576T>G p.F192L Missense 2/3 - 1
19-38817486-T-C c.576T>C p.F192= Synonymous 2/3 - 13
19-38817495-C-A c.585C>A p.L195= Synonymous 2/3 - 3
19-38817495-C-G c.585C>G p.L195= Synonymous 2/3 - 1
19-38817495-C-T c.585C>T p.L195= Synonymous 2/3 - 3
19-38817496-G-A c.586G>A p.E196K Missense 2/3 - 5
19-38817496-G-C c.586G>C p.E196Q Missense 2/3 - 1
19-38817502-G-A c.592G>A p.A198T Missense 2/3 - 6
19-38817508-AG-CT c.598_599inv p.S200L Missense 2/3 - 1
19-38817514-T-G c.604T>G p.L202V Missense 2/3 - 1
19-38817516-G-A c.606G>A p.L202= Synonymous 2/3 - 1
19-38817516-G-T c.606G>T p.L202F Missense 2/3 - 1
19-38817530-T-C c.620T>C p.F207S Missense 2/3 - 1
19-38817533-G-T c.623G>T p.C208F Missense 2/3 - 1
19-38817544-C-G c.634C>G p.L212V Missense 2/3 - 1
19-38817544-C-T c.634C>T p.L212= Synonymous 2/3 - 1
19-38817546-G-A c.636G>A p.L212= Synonymous 2/3 - 1
19-38817546-G-C c.636G>C p.L212= Synonymous 2/3 - 1
19-38817546-G-T c.636G>T p.L212= Synonymous 2/3 - 1
19-38817548-C-T c.638C>T p.S213F Missense 2/3 - 1
19-38817554-T-C c.644T>C p.I215T Missense 2/3 - 1
19-38817556-G-A c.646G>A p.G216S Missense 2/3 - 5
19-38817556-G-T c.646G>T p.G216C Missense 2/3 - 1
19-38817562-G-A c.652G>A p.G218S Missense 2/3 - 1
19-38817562-G-T c.652G>T p.G218C Missense 2/3 - 2
19-38817565-G-A c.655G>A p.D219N Missense 2/3 - 7
19-38817570-C-T c.660C>T p.Y220= Synonymous 2/3 - 2
19-38817571-G-A c.661G>A p.V221M Missense 2/3 - 1
19-38817573-G-A c.663G>A p.V221= Synonymous 2/3 - 1
19-38817573-G-C c.663G>C p.V221= Synonymous 2/3 - 1
19-38817573-G-T c.663G>T p.V221= Synonymous 2/3 - 1
19-38817576-C-A c.666C>A p.P222= Synonymous 2/3 - 1
19-38817576-C-G c.666C>G p.P222= Synonymous 2/3 - 1
19-38817576-C-T c.666C>T p.P222= Synonymous 2/3 - 5
19-38817577-G-A c.667G>A p.G223R Missense 2/3 - 1
19-38817577-G-C c.667G>C p.G223R Missense 2/3 - 1
19-38817577-G-T c.667G>T p.G223W Missense 2/3 - 1
19-38817582-G-C c.672G>C p.E224D Missense 2/3 - 2
19-38817582-G-T c.672G>T p.E224D Missense 2/3 - 3
19-38817597-C-T c.687C>T p.P229= Synonymous 2/3 - 4
19-38817601-C-T c.691C>T p.R231W Missense 2/3 - 4
19-38817602-G-C c.692G>C p.R231P Missense 2/3 - 1
19-38817604-G-A c.694G>A p.A232T Missense 2/3 - 1
19-38817608-T-C c.698T>C p.L233P Missense 2/3 - 1
19-38817612-C-A c.702C>A p.Y234* Nonsense 2/3 - 1
19-38817612-C-G c.702C>G p.Y234* Nonsense 2/3 - 1
19-38817615-G-C c.705G>C p.K235N Missense 2/3 - 1
19-38817621-G-A c.711G>A p.L237= Synonymous 2/3 - 1
19-38817621-G-T c.711G>T p.L237= Synonymous 2/3 - 1
19-38817625-A-T c.715A>T p.T239S Missense 2/3 - 1
19-38817628-G-A c.718G>A p.V240I Missense 2/3 - 13
19-38817821-C-T c.720C>T p.V240= Synonymous 3/3 - 1
19-38817823-A-G c.722A>G p.Y241C Missense 3/3 - 1
19-38817835-G-A c.734G>A p.G245D Missense 3/3 - 1
19-38817844-C-T c.743C>T p.A248V Missense 3/3 - 1
19-38817865-C-A c.764C>A p.T255N Missense 3/3 - 1
19-38817870-C-T c.769C>T p.R257C Missense 3/3 - 2
19-38817876-G-A c.775G>A p.V259M Missense 3/3 - 24
19-38817877-T-G c.776T>G p.V259G Missense 3/3 - 1
19-38817878-G-A c.777G>A p.V259= Synonymous 3/3 - 2
19-38817878-G-C c.777G>C p.V259= Synonymous 3/3 - 2
19-38817878-G-T c.777G>T p.V259= Synonymous 3/3 - 2
19-38817882-G-A c.781G>A p.D261N Missense 3/3 - 1
19-38817885-C-A c.784C>A p.L262I Missense 3/3 - 1
19-38817886-T-C c.785T>C p.L262P Missense 3/3 - 2
19-38817890-C-T c.789C>T p.H263= Synonymous 3/3 - 1
19-38817891-G-A c.790G>A p.G264S Missense 3/3 - 1
19-38817892-G-A c.791G>A p.G264D Missense 3/3 - 2
19-38817894-C-T c.793C>T p.L265F Missense 3/3 - 1
19-38817898-C-T c.797C>T p.T266M Missense 3/3 - 3
19-38817906-A-C c.805A>C p.I269L Missense 3/3 - 1
19-38817909-C-T c.808C>T p.L270= Synonymous 3/3 - 1
19-38817913-T-A c.812T>A p.L271Q Missense 3/3 - 2
19-38817916-C-T c.815C>T p.P272L Missense 3/3 - 1
19-38817918-C-T c.817C>T p.P273S Missense 3/3 - 1
19-38817921-C-T c.820C>T p.P274S Missense 3/3 - 1
19-38817920-TC-T c.821del p.P274Rfs*56 Frameshift 3/3 - 2
19-38817922-C-T c.821C>T p.P274L Missense 3/3 - 7
19-38817923-G-A c.822G>A p.P274= Synonymous 3/3 - 6
19-38817923-G-C c.822G>C p.P274= Synonymous 3/3 - 3
19-38817923-G-T c.822G>T p.P274= Synonymous 3/3 - 3
19-38817930-G-A c.829G>A p.A277T Missense 3/3 - 1
19-38817933-A-T c.832A>T p.S278C Missense 3/3 - 1
19-38817934-GT-G c.836del p.F279Sfs*51 Frameshift 3/3 - 2
19-38817943-C-T c.842C>T p.A281V Missense 3/3 - 1
19-38817944-G-A c.843G>A p.A281= Synonymous 3/3 - 3
19-38817953-C-T c.852C>T p.D284= Synonymous 3/3 - 3
19-38817954-G-A c.853G>A p.D285N Missense 3/3 - 1
19-38817957-C-T c.856C>T p.R286W Missense 3/3 - 2
19-38817960-G-C c.859G>C p.V287L Missense 3/3 - 3
19-38817960-G-T c.859G>T p.V287L Missense 3/3 - 5
19-38817963-G-A c.862G>A p.D288N Missense 3/3 - 1
19-38817966-AT-GC c.865_866delinsGC p.I289A Missense 3/3 - 1
19-38817967-T-C c.866T>C p.I289T Missense 3/3 - 2
19-38817968-C-T c.867C>T p.I289= Synonymous 3/3 - 2
19-38817969-CT-GC c.868_869delinsGC p.L290A Missense 3/3 - 1
19-38817982-C-T c.881C>T p.P294L Missense 3/3 - 1
19-38817985-A-T c.884A>T p.E295V Missense 3/3 - 1
19-38817988-C-A c.887C>A p.S296* Nonsense 3/3 - 1
19-38817992-C-A c.891C>A p.H297Q Missense 3/3 - 1
19-38817992-C-G c.891C>G p.H297Q Missense 3/3 - 1
19-38818001-C-T c.900C>T p.L300= Synonymous 3/3 - 1
19-38818012-C-T c.911C>T p.S304F Missense 3/3 - 1
19-38818014-C-A c.913C>A p.H305N Missense 3/3 - 1
19-38818018-C-T c.917C>T p.T306I Missense 3/3 - 3
19-38818019-C-G c.918C>G p.T306= Synonymous 3/3 - 1
19-38818020-G-A c.919G>A p.D307N Missense 3/3 - 1
19-38818020-G-T c.919G>T p.D307Y Missense 3/3 - 1
19-38818023-TA-GC c.922_923delinsGC p.Y308A Missense 3/3 - 1
19-38818025-C-T c.924C>T p.Y308= Synonymous 3/3 - 3
19-38818026-G-A c.925G>A p.A309T Missense 3/3 - 1
19-38818026-G-T c.925G>T p.A309S Missense 3/3 - 1
19-38818029-T-C c.928T>C p.S310P Missense 3/3 - 1
19-38818030-C-T c.929C>T p.S310F Missense 3/3 - 3
19-38818031-C-A c.930C>A p.S310= Synonymous 3/3 - 3
19-38818031-C-T c.930C>T p.S310= Synonymous 3/3 - 1
19-38818032-AT-GC c.931_932delinsGC p.I311A Missense 3/3 - 1
19-38818034-C-T c.933C>T p.I311= Synonymous 3/3 - 3
19-38818035-C-T c.934C>T p.P312S Missense 3/3 - 1
19-38818036-C-A c.935C>A p.P312H Missense 3/3 - 1
19-38818039-G-T c.938G>T p.R313M Missense 3/3 - 1
19-38818299-C-T c.*256C>T - 3-UTRSNV 3/3 - 2
19-38818718-G-A c.*675G>A - 3-UTRSNV 3/3 - 1
19-38818733-G-A c.*690G>A - 3-UTRSNV 3/3 - 1
19-38818751-T-C c.*708T>C - 3-UTRSNV 3/3 - 2
19-38818925-C-T c.*882C>T - 3-UTRSNV 3/3 - 2
19-38819098-A-G c.*1055A>G - 3-UTRSNV 3/3 - 2
19-38819463-C-G c.*1420C>G - 3-UTRSNV 3/3 - 1
19-38819463-C-T c.*1420C>T - 3-UTRSNV 3/3 - 1
19-38821608-G-A c.*3565G>A - IntergenicSNV 3/3 - 1