NKX1-2

NKX1-2 NK1 homeobox 2

Annotation transcript: NM_001146340.3

242 unique variant annotations were identified in 122 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
10-126134256-G-T c.*1742C>A - IntergenicSNV 2/2 - 1
10-126135893-T-C c.*105A>G - IntergenicSNV 2/2 - 1
10-126136005-C-T c.926G>A p.R309H Missense 2/2 - 1
10-126136006-G-T c.925C>A p.R309S Missense 2/2 - 1
10-126136008-G-A c.923C>T p.P308L Missense 2/2 - 1
10-126136009-G-A c.922C>T p.P308S Missense 2/2 - 1
10-126136010-G-C c.921C>G p.A307= Synonymous 2/2 - 1
10-126136013-G-A c.918C>T p.Y306= Synonymous 2/2 - 2
10-126136016-G-C c.915C>G p.F305L Missense 2/2 - 1
10-126136018-A-G c.913T>C p.F305L Missense 2/2 - 1
10-126136021-G-A c.910C>T p.P304S Missense 2/2 - 4
10-126136018-AG-A c.912del p.F305Sfs*72 Frameshift 2/2 - 1
10-126136023-G-A c.908C>T p.T303I Missense 2/2 - 1
10-126136033-A-G c.898T>C p.S300P Missense 2/2 - 1
10-126136035-G-A c.896C>T p.P299L Missense 2/2 - 1
10-126136040-AA-TT c.890_891inv p.L297Q Missense 2/2 - 1
10-126136042-G-T c.889C>A p.L297I Missense 2/2 - 1
10-126136046-C-G c.885G>C p.P295= Synonymous 2/2 - 1
10-126136046-C-T c.885G>A p.P295= Synonymous 2/2 - 1
10-126136047-G-A c.884C>T p.P295L Missense 2/2 - 1
10-126136061-C-A c.870G>T p.G290= Synonymous 2/2 - 1
10-126136061-C-G c.870G>C p.G290= Synonymous 2/2 - 1
10-126136061-C-T c.870G>A p.G290= Synonymous 2/2 - 1
10-126136067-G-A c.864C>T p.A288= Synonymous 2/2 - 1
10-126136070-G-A c.861C>T p.A287= Synonymous 2/2 - 1
10-126136075-C-T c.856G>A p.A286T Missense 2/2 - 1
10-126136077-G-T c.854C>A p.T285K Missense 2/2 - 1
10-126136078-T-A c.853A>T p.T285S Missense 2/2 - 1
10-126136081-G-C c.850C>G p.L284V Missense 2/2 - 1
10-126136083-G-A c.848C>T p.P283L Missense 2/2 - 1
10-126136088-G-A c.843C>T p.S281= Synonymous 2/2 - 1
10-126136088-G-C c.843C>G p.S281= Synonymous 2/2 - 1
10-126136088-G-T c.843C>A p.S281= Synonymous 2/2 - 1
10-126136089-G-A c.842C>T p.S281F Missense 2/2 - 2
10-126136093-C-T c.838G>A p.A280T Missense 2/2 - 1
10-126136096-C-T c.835G>A p.A279T Missense 2/2 - 1
10-126136097-G-A c.834C>T p.S278= Synonymous 2/2 - 2
10-126136097-G-C c.834C>G p.S278= Synonymous 2/2 - 1
10-126136097-G-T c.834C>A p.S278= Synonymous 2/2 - 1
10-126136101-G-A c.830C>T p.P277L Missense 2/2 - 1
10-126136104-A-T c.827T>A p.F276Y Missense 2/2 - 1
10-126136105-A-G c.826T>C p.F276L Missense 2/2 - 1
10-126136109-G-A c.822C>T p.V274= Synonymous 2/2 - 1
10-126136112-A-C c.819T>G p.N273K Missense 2/2 - 2
10-126136112-A-G c.819T>C p.N273= Synonymous 2/2 - 10
10-126136112-A-T c.819T>A p.N273K Missense 2/2 - 1
10-126136117-C-T c.814G>A p.A272T Missense 2/2 - 1
10-126136119-G-T c.812C>A p.A271E Missense 2/2 - 4
10-126136121-G-A c.810C>T p.S270= Synonymous 2/2 - 2
10-126136121-G-C c.810C>G p.S270= Synonymous 2/2 - 1
10-126136121-G-T c.810C>A p.S270= Synonymous 2/2 - 2
10-126136127-G-A c.804C>T p.S268= Synonymous 2/2 - 1
10-126136129-A-G c.802T>C p.S268P Missense 2/2 - 1
10-126136141-G-A c.790C>T p.Q264* Nonsense 2/2 - 1
10-126136147-G-C c.784C>G p.H262D Missense 2/2 - 2
10-126136148-C-A c.783G>T p.L261= Synonymous 2/2 - 1
10-126136148-C-G c.783G>C p.L261= Synonymous 2/2 - 1
10-126136148-C-T c.783G>A p.L261= Synonymous 2/2 - 1
10-126136150-G-A c.781C>T p.L261= Synonymous 2/2 - 1
10-126136153-C-T c.778G>A p.A260T Missense 2/2 - 1
10-126136155-C-A c.776G>T p.G259V Missense 2/2 - 1
10-126136170-C-T c.761G>A p.G254D Missense 2/2 - 1
10-126136171-C-T c.760G>A p.G254S Missense 2/2 - 1
10-126136185-G-A c.746C>T p.S249L Missense 2/2 - 1
10-126136188-C-T c.743G>A p.G248D Missense 2/2 - 2
10-126136189-C-T c.742G>A p.G248S Missense 2/2 - 2
10-126136186-AGCC-A c.742_744del p.G248del InFrameDeletion 2/2 - 2
10-126136203-C-T c.728G>A p.G243D Missense 2/2 - 1
10-126136209-G-A c.722C>T p.A241V Missense 2/2 - 1
10-126136212-G-A c.719C>T p.A240V Missense 2/2 - 2
10-126136224-G-A c.707C>T p.P236L Missense 2/2 - 1
10-126136231-C-T c.700G>A p.G234S Missense 2/2 - 2
10-126136232-A-C c.699T>G p.G233= Synonymous 2/2 - 2
10-126136232-A-G c.699T>C p.G233= Synonymous 2/2 - 2
10-126136232-A-T c.699T>A p.G233= Synonymous 2/2 - 2
10-126136233-C-T c.698G>A p.G233D Missense 2/2 - 1
10-126136232-A-AC c.698dup p.G234Wfs*161 Frameshift 2/2 - 1
10-126136238-C-A c.693G>T p.V231= Synonymous 2/2 - 1
10-126136238-C-G c.693G>C p.V231= Synonymous 2/2 - 1
10-126136238-C-T c.693G>A p.V231= Synonymous 2/2 - 1
10-126136239-A-C c.692T>G p.V231G Missense 2/2 - 3
10-126136239-A-G c.692T>C p.V231A Missense 2/2 - 16
10-126136244-C-A c.687G>T p.A229= Synonymous 2/2 - 1
10-126136244-C-G c.687G>C p.A229= Synonymous 2/2 - 1
10-126136244-C-T c.687G>A p.A229= Synonymous 2/2 - 2
10-126136245-G-A c.686C>T p.A229V Missense 2/2 - 2
10-126136250-G-A c.681C>T p.G227= Synonymous 2/2 - 1
10-126136255-C-T c.676G>A p.D226N Missense 2/2 - 1
10-126136256-G-A c.675C>T p.A225= Synonymous 2/2 - 1
10-126136259-A-C c.672T>G p.G224= Synonymous 2/2 - 1
10-126136259-A-G c.672T>C p.G224= Synonymous 2/2 - 1
10-126136259-A-T c.672T>A p.G224= Synonymous 2/2 - 1
10-126136261-C-G c.670G>C p.G224R Missense 2/2 - 1
10-126136261-C-T c.670G>A p.G224S Missense 2/2 - 1
10-126136266-T-C c.665A>G p.N222S Missense 2/2 - 1
10-126136266-T-G c.665A>C p.N222T Missense 2/2 - 2
10-126136269-T-C c.662A>G p.Q221R Missense 2/2 - 1
10-126136278-C-A c.653G>T p.W218L Missense 2/2 - 1
10-126136292-A-G c.639T>C p.N213= Synonymous 2/2 - 1
10-126136304-G-A c.627C>T p.I209= Synonymous 2/2 - 1
10-126136315-G-A c.616C>T p.Q206* Nonsense 2/2 - 1
10-126136317-G-A c.614C>T p.T205M Missense 2/2 - 1
10-126136329-C-T c.602G>A p.S201N Missense 2/2 - 1
10-126136331-G-A c.600C>T p.L200= Synonymous 2/2 - 1
10-126136333-G-C c.598C>G p.L200V Missense 2/2 - 1
10-126136339-G-A c.592C>T p.L198= Synonymous 2/2 - 1
10-126136339-G-T c.592C>A p.L198M Missense 2/2 - 2
10-126136340-C-T c.591G>A p.A197= Synonymous 2/2 - 1
10-126136341-G-A c.590C>T p.A197V Missense 2/2 - 1
10-126136343-G-A c.588C>T p.L196= Synonymous 2/2 - 1
10-126136343-G-C c.588C>G p.L196= Synonymous 2/2 - 1
10-126136343-G-T c.588C>A p.L196= Synonymous 2/2 - 1
10-126136351-G-A c.580C>T p.L194= Synonymous 2/2 - 1
10-126136353-C-T c.578G>A p.R193H Missense 2/2 - 1
10-126136365-G-T c.566C>A p.S189* Nonsense 2/2 - 1
10-126136378-T-C c.553A>G p.T185A Missense 2/2 - 2
10-126136385-G-C c.546C>G p.F182L Missense 2/2 - 1
10-126136389-T-C c.542A>G p.K181R Missense 2/2 - 1
10-126136390-T-C c.541A>G p.K181E Missense 2/2 - 1
10-126136392-T-A c.539A>T p.N180I Missense 2/2 - 1
10-126136399-A-C c.532T>G p.L178V Missense 2/2 - 1
10-126136403-C-A c.528G>T p.V176= Synonymous 2/2 - 1
10-126136406-C-A c.525G>T p.L175= Synonymous 2/2 - 1
10-126136406-C-G c.525G>C p.L175= Synonymous 2/2 - 1
10-126136406-C-T c.525G>A p.L175= Synonymous 2/2 - 1
10-126136408-G-A c.523C>T p.L175= Synonymous 2/2 - 1
10-126136423-A-C c.508T>G p.F170V Missense 2/2 - 1
10-126136429-T-C c.502A>G p.T168A Missense 2/2 - 1
10-126136429-T-G c.502A>C p.T168P Missense 2/2 - 1
10-126136432-G-A c.499C>T p.R167C Missense 2/2 - 1
10-126136433-C-A c.498G>T p.A166= Synonymous 2/2 - 2
10-126136433-C-G c.498G>C p.A166= Synonymous 2/2 - 2
10-126136433-C-T c.498G>A p.A166= Synonymous 2/2 - 2
10-126136434-G-A c.497C>T p.A166V Missense 2/2 - 3
10-126136429-TGC-T c.500_501del p.R167Hfs*227 Frameshift 2/2 - 1
10-126136438-G-A c.493C>T p.R165C Missense 2/2 - 1
10-126136442-C-T c.489G>A p.P163= Synonymous 2/2 - 1
10-126136447-T-A c.484A>T p.K162* Nonsense 2/2 - 1
10-126136451-G-A c.480C>T p.C160= Synonymous 2/2 - 1
10-126136455-T-G c.476A>C p.N159T Missense 2/2 - 1
10-126136457-G-A c.474C>T p.P158= Synonymous 2/2 - 1
10-126136457-G-C c.474C>G p.P158= Synonymous 2/2 - 1
10-126136457-G-T c.474C>A p.P158= Synonymous 2/2 - 1
10-126136463-C-A c.468G>T p.L156= Synonymous 2/2 - 1
10-126136463-C-G c.468G>C p.L156= Synonymous 2/2 - 1
10-126136463-C-T c.468G>A p.L156= Synonymous 2/2 - 1
10-126136465-G-A c.466C>T p.L156= Synonymous 2/2 - 1
10-126136465-G-C c.466C>G p.L156V Missense 2/2 - 14
10-126136483-G-A c.448C>T p.R150C Missense 2/2 - 1
10-126136483-G-T c.448C>A p.R150S Missense 2/2 - 1
10-126136486-G-A c.445C>T p.P149S Missense 2/2 - 1
10-126136498-A-C c.433T>G p.S145A Missense 2/2 - 1
10-126136500-C-T c.431G>A p.G144E Missense 2/2 - 1
10-126136507-G-C c.424C>G p.P142A Missense 2/2 - 1
10-126136502-C-CG c.428dup p.S145Ifs*250 Frameshift 2/2 - 1
10-126136502-CG-C c.428del p.P143Rfs*52 Frameshift 2/2 - 1
10-126136510-A-C c.421T>G p.S141A Missense 2/2 - 1
10-126136516-C-G c.415G>C p.V139L Missense 2/2 - 1
10-126136529-G-A c.402C>T p.G134= Synonymous 2/2 - 1
10-126136529-G-C c.402C>G p.G134= Synonymous 2/2 - 1
10-126136529-G-T c.402C>A p.G134= Synonymous 2/2 - 1
10-126136535-C-A c.396G>T p.E132D Missense 2/2 - 1
10-126136559-T-C c.372A>G p.A124= Synonymous 2/2 - 1
10-126136559-T-G c.372A>C p.A124= Synonymous 2/2 - 1
10-126136561-C-G c.370G>C p.A124P Missense 2/2 - 1
10-126136562-C-T c.369G>A p.G123= Synonymous 2/2 - 1
10-126136566-G-A c.365C>T p.A122V Missense 2/2 - 1
10-126136568-C-A c.363G>T p.P121= Synonymous 2/2 - 1
10-126136568-C-G c.363G>C p.P121= Synonymous 2/2 - 1
10-126136568-C-T c.363G>A p.P121= Synonymous 2/2 - 1
10-126136583-GCG-TCA c.346_348delinsTGA p.R116* Nonsense 2/2 - 1
10-126136633-T-C c.298A>G p.R100G Missense 2/2 - 1
10-126136641-T-A c.290A>T p.D97V Missense 2/2 - 1
10-126136642-C-T c.289G>A p.D97N Missense 2/2 - 1
10-126136643-C-T c.288G>A p.E96= Synonymous 2/2 - 1
10-126136647-G-A c.284C>T p.A95V Missense 2/2 - 3
10-126136661-T-A c.270A>T p.E90D Missense 2/2 - 1
10-126136661-T-G c.270A>C p.E90D Missense 2/2 - 1
10-126136681-G-T c.250C>A p.L84M Missense 2/2 - 1
10-126136682-G-A c.249C>T p.P83= Synonymous 2/2 - 3
10-126136682-G-C c.249C>G p.P83= Synonymous 2/2 - 10
10-126136682-G-T c.249C>A p.P83= Synonymous 2/2 - 10
10-126136685-G-A c.246C>T p.S82= Synonymous 2/2 - 1
10-126136685-G-C c.246C>G p.S82= Synonymous 2/2 - 1
10-126136685-G-T c.246C>A p.S82= Synonymous 2/2 - 1
10-126136680-AG-A c.250del p.L84Wfs*31 Frameshift 2/2 - 1
10-126136702-C-G c.229G>C p.G77R Missense 2/2 - 1
10-126136803-C-A c.215-87G>T - IntronicSNV - 1/1 1
10-126136803-C-T c.215-87G>A - IntronicSNV - 1/1 1
10-126136811-C-A c.215-95G>T - IntronicSNV - 1/1 1
10-126136811-C-G c.215-95G>C - IntronicSNV - 1/1 1
10-126137436-T-A c.215-720A>T - IntronicSNV - 1/1 1
10-126137436-T-C c.215-720A>G - IntronicSNV - 1/1 1
10-126137882-A-C c.214+417T>G - IntronicSNV - 1/1 1
10-126138041-G-A c.214+258C>T - IntronicSNV - 1/1 1
10-126138317-G-A c.196C>T p.R66* Nonsense 1/2 - 1
10-126138325-T-C c.188A>G p.D63G Missense 1/2 - 1
10-126138326-C-T c.187G>A p.D63N Missense 1/2 - 1
10-126138327-C-T c.186G>A p.R62= Synonymous 1/2 - 1
10-126138330-G-T c.183C>A p.S61= Synonymous 1/2 - 1
10-126138331-G-A c.182C>T p.S61F Missense 1/2 - 1
10-126138332-A-C c.181T>G p.S61A Missense 1/2 - 1
10-126138345-C-A c.168G>T p.G56= Synonymous 1/2 - 7
10-126138345-C-G c.168G>C p.G56= Synonymous 1/2 - 2
10-126138345-C-T c.168G>A p.G56= Synonymous 1/2 - 7
10-126138349-G-A c.164C>T p.A55V Missense 1/2 - 3
10-126138349-G-T c.164C>A p.A55E Missense 1/2 - 1
10-126138355-A-G c.158T>C p.V53A Missense 1/2 - 1
10-126138391-G-T c.122C>A p.P41Q Missense 1/2 - 1
10-126138397-A-T c.116T>A p.V39E Missense 1/2 - 3
10-126138409-G-A c.104C>T p.A35V Missense 1/2 - 1
10-126138413-C-T c.100G>A p.A34T Missense 1/2 - 1
10-126138416-G-A c.97C>T p.R33C Missense 1/2 - 1
10-126138420-G-T c.93C>A p.F31L Missense 1/2 - 1
10-126138426-C-A c.87G>T p.Q29H Missense 1/2 - 1
10-126138426-C-G c.87G>C p.Q29H Missense 1/2 - 1
10-126138430-G-A c.83C>T p.P28L Missense 1/2 - 1
10-126138432-G-C c.81C>G p.D27E Missense 1/2 - 1
10-126138432-G-T c.81C>A p.D27E Missense 1/2 - 1
10-126138440-T-C c.73A>G p.I25V Missense 1/2 - 1
10-126138441-G-A c.72C>T p.D24= Synonymous 1/2 - 1
10-126138447-G-A c.66C>T p.V22= Synonymous 1/2 - 1
10-126138447-G-C c.66C>G p.V22= Synonymous 1/2 - 1
10-126138447-G-T c.66C>A p.V22= Synonymous 1/2 - 1
10-126138449-C-A c.64G>T p.V22F Missense 1/2 - 1
10-126138449-C-T c.64G>A p.V22I Missense 1/2 - 1
10-126138453-G-T c.60C>A p.F20L Missense 1/2 - 1
10-126138462-C-A c.51G>T p.K17N Missense 1/2 - 6
10-126138462-C-G c.51G>C p.K17N Missense 1/2 - 3
10-126138464-T-C c.49A>G p.K17E Missense 1/2 - 1
10-126138465-G-C c.48C>G p.H16Q Missense 1/2 - 1
10-126138465-G-T c.48C>A p.H16Q Missense 1/2 - 1
10-126138473-A-G c.40T>C p.S14P Missense 1/2 - 1
10-126138476-G-A c.37C>T p.P13S Missense 1/2 - 3
10-126138478-G-T c.35C>A p.A12D Missense 1/2 - 1
10-126138480-CGC-ATG c.31_33delinsCAT p.A11H Missense 1/2 - 1
10-126138481-G-C c.32C>G p.A11G Missense 1/2 - 1
10-126138490-C-T c.23G>A p.G8E Missense 1/2 - 1
10-126138501-C-T c.12G>A p.W4* Nonsense 1/2 - 5
10-126138502-C-T c.11G>A p.W4* Nonsense 1/2 - 2
10-126138506-C-T c.7G>A p.A3T Missense 1/2 - 1
10-126138519-C-T c.-7G>A - 5-UTRSNV 1/2 - 1