Transcript #00010380 (NM_000525.3, KCNJ11 gene)

Transcript name transcript variant 1
Gene name KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11)
Chromosome 11
Transcript - NCBI ID NM_000525.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000516.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

167 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-6235C>T r.(?) p.(=)
?/. - c.-6222A>G r.(?) p.(=)
-?/. - c.-6205C>T r.(?) p.(=)
-?/. - c.-6178C>A r.(?) p.(=)
?/. - c.-6176C>T r.(?) p.(=)
-?/. - c.-6162C>T r.(?) p.(=)
-?/. - c.-6161C>T r.(?) p.(=)
-?/. - c.-5651G>T r.(?) p.(=)
?/. - c.-5606G>A r.(?) p.(=)
-?/. - c.-5606G>A r.(?) p.(=)
-?/. - c.-5052T>A r.(?) p.(=)
-?/. - c.-5049T>A r.(?) p.(=)
-/. - c.-5044T>A r.(?) p.(=)
?/. - c.-5022A>T r.(?) p.(=)
-?/. - c.-4999C>T r.(?) p.(=)
-?/. - c.-4990G>A r.(?) p.(=)
-?/. - c.-4943G>A r.(?) p.(=)
-?/. - c.-4927C>T r.(?) p.(=)
-/. - c.-4918C>T r.(?) p.(=)
?/. - c.-4917G>A r.(?) p.(=)
+/. 1 c.10C>T r.(?) p.(Arg4Cys)
?/. 1 c.11G>A r.(?) p.(Arg4His)
?/. - c.11G>A r.(?) p.(Arg4His)
?/. - c.15G>C r.(?) p.(Lys5Asn)
-?/. - c.37G>A r.(?) p.(Val13Met)
+/. 1 c.50T>C r.(?) p.(Leu17Pro)
?/. - c.67A>G r.(?) p.(Lys23Glu)
-/. - c.67A>G r.(?) p.(Lys23Glu)
+/. 1 c.78C>A r.(?) p.(Tyr26*)
+/. 1 c.79C>T r.(?) p.(Arg27Cys)
?/. - c.92G>T r.(?) p.(Arg31Leu)
-?/. - c.108G>A r.(?) p.(Val36=)
+/. 1 c.112A>G r.(?) p.(Lys38Glu)
+/. 1 c.119G>C r.(?) p.(Gly40Ala)
?/. 1 c.125G>A r.(?) p.(Cys42Tyr)
?/. 1 c.130G>A r.(?) p.(Val44Met)
?/. - c.130G>A r.(?) p.(Val44Met)
?/. 1 c.133G>T r.(?) p.(Ala45Ser)
+/. 1 c.145A>T r.(?) p.(Ile49Phe)
?/. 1 c.148C>T r.(?) p.(Arg50Trp)
+/. 1 c.152A>G r.(?) p.(Glu51Gly)
?/. 1 c.155A>C r.(?) p.(Gln52Pro)
+/. 1 c.160C>T r.(?) p.(Arg54Cys)
+/. 1 c.166_167delinsGG r.(?) p.(Leu56Gly)
?/. 1 c.173A>T r.(?) p.(Asp58Val)
?/. 1 c.179T>C r.(?) p.(Phe60Ser)
+/. 1 c.185del r.(?) p.(Thr62Serfs*68)
-?/. - c.186G>A r.(?) p.(Thr62=)
+/. 1 c.240del r.(?) p.(Cys81Alafs*49)
?/. 1 c.251T>G r.(?) p.(Leu84Arg)
?/. - c.280G>A r.(?) p.(Ala94Thr)
?/. - c.287C>T r.(?) p.(Ala96Val)
?/. 1 c.287C>T r.(?) p.(Ala96Val)
?/. 1 c.289C>T r.(?) p.(His97Tyr)
?/. - c.290A>G r.(?) p.(His97Arg)
+/. 1 c.295G>T r.(?) p.(Asp99Tyr)
?/. - c.302C>A r.(?) p.(Ala101Asp)
-?/. - c.309C>T r.(?) p.(Ser103=)
-?/. - c.337A>G r.(?) p.(Ser113Gly)
?/. 1 c.341T>C r.(?) p.(Ile114Thr)
?/. 1 c.344A>T r.(?) p.(His115Leu)
?/. 1 c.353C>T r.(?) p.(Ser118Leu)
+/. 1 c.356dup r.(?) p.(Ala120Cysfs*7)
?/. 1 c.362T>C r.(?) p.(Phe121Ser)
?/. 1 c.385G>A r.(?) p.(Val129Met)
+/. 1 c.390_393dup r.(?) p.(Gly132Tyrfs*10)
?/. 1 c.391A>G r.(?) p.(Ile131Val)
?/. 1 c.391_393dup r.(?) p.(Ile131dup)
?/. 1 c.415A>C r.(?) p.(Thr139Pro)
?/. 1 c.418G>A r.(?) p.(Glu140Lys)
?/. 1 c.425G>A r.(?) p.(Cys142Tyr)
+?/. - c.426C>G r.(?) p.(Cys142Trp)
-?/. - c.459C>T r.(?) p.(Asn153=)
?/. 1 c.463G>A r.(?) p.(Val155Met)
?/. 1 c.463G>T r.(?) p.(Val155Leu)
?/. 1 c.469C>G r.(?) p.(Leu157Val)
?/. - c.475A>G r.(?) p.(Ile159Val)
?/. 1 c.480C>G r.(?) p.(Asn160Lys)
?/. 1 c.490C>T r.(?) p.(Leu164Phe)
+/. 1 c.498C>G r.(?) p.(Cys166Trp)
?/. 1 c.499A>G r.(?) p.(Ile167Val)
+/. 1 c.506T>C r.(?) p.(Met169Thr)
?/. 1 c.512C>A r.(?) p.(Thr171Asn)
+?/. - c.515C>G r.(?) p.(Ala172Gly)
?/. - c.527G>A r.(?) p.(Arg176His)
+?/. - c.527G>T r.(?) p.(Arg176Leu)
+/. 1 c.532del r.(?) p.(Ala178Leufs*11)
+/. 1 c.535G>A r.(?) p.(Glu179Lys)
?/. 1 c.539C>T r.(?) p.(Thr180Ile)
?/. 1 c.539C>T r.(?) p.(Thr180Ile)
?/. - c.560C>T r.(?) p.(Ala187Val)
-?/. - c.561G>A r.(?) p.(Ala187=)
-?/. - c.567C>T r.(?) p.(Ile189=)
?/. - c.570C>T r.(?) p.(Ala190=)
-?/. - c.584G>A r.(?) p.(Arg195His)
+/. 1 c.601C>T r.(?) p.(Arg201Cys)
+/. - c.602G>A r.(?) p.(Arg201His)
+/. - c.602G>A r.(?) p.(Arg201His)
?/. - c.612C>A r.(?) p.(Asp204Glu)
+/. 1 c.617G>A r.(?) p.(Arg206His)
Legend   How to query   « First ‹ Prev     1 2     Next › Last »