Transcript #00010325 (NM_000217.2, KCNA1 gene)

Transcript name potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
Gene name KCNA1 (potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia))
Chromosome 12
Transcript - NCBI ID NM_000217.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000208.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

35 entries on 1 page. Showing entries 1 - 35.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.136C>A r.(?) p.(Leu46Met)
-?/. - c.237G>A r.(?) p.(Glu79=)
-?/. - c.303C>T r.(?) p.(Arg101=)
-?/. - c.393G>A r.(?) p.(Arg131=)
?/. - c.497C>T r.(?) p.(Ala166Val)
+?/. - c.500G>T r.(?) p.(Arg167Met)
+/. - c.520G>T r.(?) p.(Val174Phe)
+?/. - c.550T>G r.(?) p.(Phe184Val)
?/. - c.669C>G r.(?) p.(Ile223Met)
-/. - c.684T>C r.(?) p.(Cys228=)
-/. - c.684T>C r.(?) p.(Cys228=)
-/. - c.684T>C r.(?) p.(Cys228=)
?/. - c.803_804delinsAC r.(?) p.(Thr268Asn)
-/. - c.804G>C r.(?) p.(Thr268=)
-/. - c.804G>C r.(?) p.(Thr268=)
-/. - c.804G>C r.(?) p.(Thr268=)
+/. - c.860C>T r.(?) p.(Ser287Phe)
+/. - c.913C>G r.(?) p.(Leu305Val)
?/. - c.920G>A r.(?) p.(Arg307His)
+?/. - c.931G>A r.(?) p.(Gly311Ser)
+?/. - c.1007G>A r.(?) p.(Gly336Glu)
?/. - c.1085C>A r.(?) p.(Ala362Asp)
+/. - c.1112C>T r.(?) p.(Thr371Ile)
-?/. - c.1125C>T r.(?) p.(Tyr375=)
+/. - c.1129G>C r.(?) p.(Asp377His)
?/. - c.1297C>T r.(?) p.(Pro433Ser)
-/. - c.1440T>A r.(?) p.(Thr480=)
-/. - c.1440T>A r.(?) p.(Thr480=)
-/. - c.1440T>A r.(?) p.(Thr480=)
-?/. - c.1458T>C r.(?) p.(Val486=)
-/. - c.*9G>A r.(=) p.(=)
-/. - c.*9G>A r.(=) p.(=)
-/. - c.*9G>A r.(=) p.(=)
-/. - c.*228A>C r.(=) p.(=)
-/. - c.*228A>C r.(=) p.(=)
Legend   How to query