Annotation Detail
Information
- Associated Genes
- ATP1A3
- Associated Variants
-
ATP1A3 p.Val932del (p.V932del), ENSG00000285505 p.Val919del (p.V919del)
(
ENST00000543770.5,
ENST00000545399.6,
ENST00000602133.5,
ENST00000648268.1 )
ATP1A3 p.Val932del (p.V932del), ENSG00000285505 p.Val919del (p.V919del) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp1005Tyr (p.D1005Y), ENSG00000285505 p.Asp992Tyr (p.D992Y) ( ENST00000602133.5, ENST00000545399.6, ENST00000543770.5, ENST00000648268.1 )
ATP1A3 p.Ala968Asp (p.A968D), ENSG00000285505 p.Ala955Asp (p.A955D) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly960Arg (p.G960R), ENSG00000285505 p.Gly947Arg (p.G947R) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly960Arg (p.G960R), ENSG00000285505 p.Gly947Arg (p.G947R) ( ENST00000545399.6, ENST00000543770.5, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Cys940= (p.C940=), ENSG00000285505 p.Cys927= (p.C927=) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Cys940Trp (p.C940W), ENSG00000285505 p.Cys927Trp (p.C927W) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Cys940Phe (p.C940F), ENSG00000285505 p.Cys927Phe (p.C927F) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Cys940Tyr (p.C940Y), ENSG00000285505 p.Cys927Tyr (p.C927Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp936Tyr (p.D936Y), ENSG00000285505 p.Asp923Tyr (p.D923Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp936Asn (p.D936N), ENSG00000285505 p.Asp923Asn (p.D923N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly880Asp (p.G880D), ENSG00000285505 p.Gly867Asp (p.G867D) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 c.2581+1G>A, ENSG00000285505 c.2542+1G>A ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Glu831Lys (p.E831K), ENSG00000285505 p.Glu818Lys (p.E818K) ( ENST00000602133.5, ENST00000545399.6, ENST00000543770.5, ENST00000648268.1 )
ATP1A3 p.Glu828Lys (p.E828K), ENSG00000285505 p.Glu815Lys (p.E815K) ( ENST00000545399.6, ENST00000543770.5, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ser824Pro (p.S824P), ENSG00000285505 p.Ser811Pro (p.S811P) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile823Ser (p.I823S), ENSG00000285505 p.Ile810Ser (p.I810S) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile823Asn (p.I823N), ENSG00000285505 p.Ile810Asn (p.I810N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile823Phe (p.I823F), ENSG00000285505 p.Ile810Phe (p.I810F) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Met819Arg (p.M819R), ENSG00000285505 p.Met806Arg (p.M806R) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Met819Lys (p.M819K), ENSG00000285505 p.Met806Lys (p.M806K) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp818Glu (p.D818E), ENSG00000285505 p.Asp805Glu (p.D805E) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Thr817Ile (p.T817I), ENSG00000285505 p.Thr804Ile (p.T804I) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp814Tyr (p.D814Y), ENSG00000285505 p.Asp801Tyr (p.D801Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp814Asn (p.D814N), ENSG00000285505 p.Asp801Asn (p.D801N) ( ENST00000602133.5, ENST00000543770.5, ENST00000545399.6, ENST00000648268.1 )
ATP1A3 p.Asn786Ile (p.N786I), ENSG00000285505 p.Asn773Ile (p.N773I) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asn786Ser (p.N786S), ENSG00000285505 p.Asn773Ser (p.N773S) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ser785Arg (p.S785R), ENSG00000285505 p.Ser772Arg (p.S772R) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ser785Arg (p.S785R), ENSG00000285505 p.Ser772Arg (p.S772R) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Thr784Ile (p.T784I), ENSG00000285505 p.Thr771Ile (p.T771I) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Thr784Asn (p.T784N), ENSG00000285505 p.Thr771Asn (p.T771N) ( ENST00000602133.5, ENST00000543770.5, ENST00000545399.6, ENST00000648268.1 )
ATP1A3 p.Leu770Pro (p.L770P), ENSG00000285505 p.Leu757Pro (p.L757P) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly768Ala (p.G768A), ENSG00000285505 p.Gly755Ala (p.G755A) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly768Cys (p.G768C), ENSG00000285505 p.Gly755Cys (p.G755C) ( ENST00000602133.5, ENST00000545399.6, ENST00000543770.5, ENST00000648268.1 )
ATP1A3 p.Gly768Ser (p.G768S), ENSG00000285505 p.Gly755Ser (p.G755S) ( ENST00000602133.5, ENST00000545399.6, ENST00000543770.5, ENST00000648268.1 )
ATP1A3 p.Leu384Pro (p.L384P), ENSG00000285505 p.Leu371Pro (p.L371P) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly371Cys (p.G371C), ENSG00000285505 p.Gly358Cys (p.G358C) ( ENST00000545399.6, ENST00000543770.5, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Thr348Pro (p.T348P), ENSG00000285505 p.Thr335Pro (p.T335P) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Cys346Phe (p.C346F), ENSG00000285505 p.Cys333Phe (p.C333F) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Val335Asp (p.V335D), ENSG00000285505 p.Val322Asp (p.V322D) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile287Thr (p.I287T), ENSG00000285505 p.Ile274Thr (p.I274T) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile287Asn (p.I287N), ENSG00000285505 p.Ile274Asn (p.I274N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gln153Leu (p.Q153L), ENSG00000285505 p.Gln140Leu (p.Q140L) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ser150Phe (p.S150F), ENSG00000285505 p.Ser137Phe (p.S137F) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ser150Tyr (p.S150Y), ENSG00000285505 p.Ser137Tyr (p.S137Y) ( ENST00000602133.5, ENST00000543770.5, ENST00000545399.6, ENST00000648268.1 )
ATP1A3 p.Asp1005Tyr (p.D1005Y), ENSG00000285505 p.Asp992Tyr (p.D992Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ala968Asp (p.A968D), ENSG00000285505 p.Ala955Asp (p.A955D) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly960Arg (p.G960R), ENSG00000285505 p.Gly947Arg (p.G947R) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly960Arg (p.G960R), ENSG00000285505 p.Gly947Arg (p.G947R) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Cys940= (p.C940=), ENSG00000285505 p.Cys927= (p.C927=) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Cys940Trp (p.C940W), ENSG00000285505 p.Cys927Trp (p.C927W) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Cys940Phe (p.C940F), ENSG00000285505 p.Cys927Phe (p.C927F) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Cys940Tyr (p.C940Y), ENSG00000285505 p.Cys927Tyr (p.C927Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp936Tyr (p.D936Y), ENSG00000285505 p.Asp923Tyr (p.D923Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp936Asn (p.D936N), ENSG00000285505 p.Asp923Asn (p.D923N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly880Asp (p.G880D), ENSG00000285505 p.Gly867Asp (p.G867D) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 c.2581+1G>A, ENSG00000285505 c.2542+1G>A ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Glu831Lys (p.E831K), ENSG00000285505 p.Glu818Lys (p.E818K) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Glu828Lys (p.E828K), ENSG00000285505 p.Glu815Lys (p.E815K) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ser824Pro (p.S824P), ENSG00000285505 p.Ser811Pro (p.S811P) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile823Ser (p.I823S), ENSG00000285505 p.Ile810Ser (p.I810S) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile823Asn (p.I823N), ENSG00000285505 p.Ile810Asn (p.I810N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile823Phe (p.I823F), ENSG00000285505 p.Ile810Phe (p.I810F) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Met819Arg (p.M819R), ENSG00000285505 p.Met806Arg (p.M806R) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Met819Lys (p.M819K), ENSG00000285505 p.Met806Lys (p.M806K) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp818Glu (p.D818E), ENSG00000285505 p.Asp805Glu (p.D805E) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Thr817Ile (p.T817I), ENSG00000285505 p.Thr804Ile (p.T804I) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp814Tyr (p.D814Y), ENSG00000285505 p.Asp801Tyr (p.D801Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asp814Asn (p.D814N), ENSG00000285505 p.Asp801Asn (p.D801N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asn786Ile (p.N786I), ENSG00000285505 p.Asn773Ile (p.N773I) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Asn786Ser (p.N786S), ENSG00000285505 p.Asn773Ser (p.N773S) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ser785Arg (p.S785R), ENSG00000285505 p.Ser772Arg (p.S772R) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ser785Arg (p.S785R), ENSG00000285505 p.Ser772Arg (p.S772R) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Thr784Ile (p.T784I), ENSG00000285505 p.Thr771Ile (p.T771I) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Thr784Asn (p.T784N), ENSG00000285505 p.Thr771Asn (p.T771N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Leu770Pro (p.L770P), ENSG00000285505 p.Leu757Pro (p.L757P) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly768Ala (p.G768A), ENSG00000285505 p.Gly755Ala (p.G755A) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly768Cys (p.G768C), ENSG00000285505 p.Gly755Cys (p.G755C) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly768Ser (p.G768S), ENSG00000285505 p.Gly755Ser (p.G755S) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Leu384Pro (p.L384P), ENSG00000285505 p.Leu371Pro (p.L371P) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gly371Cys (p.G371C), ENSG00000285505 p.Gly358Cys (p.G358C) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Thr348Pro (p.T348P), ENSG00000285505 p.Thr335Pro (p.T335P) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Cys346Phe (p.C346F), ENSG00000285505 p.Cys333Phe (p.C333F) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Val335Asp (p.V335D), ENSG00000285505 p.Val322Asp (p.V322D) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile287Thr (p.I287T), ENSG00000285505 p.Ile274Thr (p.I274T) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ile287Asn (p.I287N), ENSG00000285505 p.Ile274Asn (p.I274N) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Gln153Leu (p.Q153L), ENSG00000285505 p.Gln140Leu (p.Q140L) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ser150Phe (p.S150F), ENSG00000285505 p.Ser137Phe (p.S137F) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 )
ATP1A3 p.Ser150Tyr (p.S150Y), ENSG00000285505 p.Ser137Tyr (p.S137Y) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 ) - Associated Disease
- Alternating hemiplegia of childhood 2
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- NA
Drugs