Transcript #00010380

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

122 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-6178C>A r.(?) p.(=)
-/. - c.-5552G>C r.(?) p.(=)
-/. - c.-5077A>G r.(?) p.(=)
-?/. - c.-4990G>A r.(?) p.(=)
+/. 1 c.10C>T r.(?) p.(Arg4Cys)
?/. 1 c.11G>A r.(?) p.(Arg4His)
+/. 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)
+/. 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)
?/. 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.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)
?/. 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)
?/. 1 c.463G>A r.(?) p.(Val155Met)
?/. 1 c.463G>T r.(?) p.(Val155Leu)
?/. 1 c.469C>G r.(?) p.(Leu157Val)
?/. 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.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)
?/. - c.560C>T r.(?) p.(Ala187Val)
?/. - c.570C>T r.(?) p.(Ala190=)
+/. 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)
?/. 1 c.623G>A r.(?) p.(Ser208Asn)
+/. 1 c.623G>C r.(?) p.(Ser208Thr)
?/. 1 c.636C>T r.(?) p.(Ser212=)
?/. 1 c.664A>C r.(?) p.(Lys222Gln)
?/. - c.730G>A r.(?) p.(Val244Met)
+/. 1 c.774C>A r.(?) p.(Tyr258*)
+/. 1 c.775del r.(?) p.(His259Metfs*61)
?/. 1 c.778G>C r.(?) p.(Val260Leu)
?/. 1 c.794G>T r.(?) p.(Ser265Ile)
-?/. - c.801C>G r.(?) p.(Leu267=)
-?/. - c.801C>G r.(?) p.(Leu267=)
-/. - c.801C>G r.(?) p.(Leu267=)
-/. - c.801C>G r.(?) p.(Leu267=)
?/. 1 c.802T>C r.(?) p.(Tyr268His)
?/. - c.804C>T r.(?) p.(Tyr268=)
-/. - c.808C>G r.(?) p.(Leu270Val)
-/. - c.808C>G r.(?) p.(Leu270Val)
-?/. - c.808C>G r.(?) p.(Leu270Val)
-/. - c.808C>G r.(?) p.(Leu270Val)
?/. 1 c.820G>C r.(?) p.(Asp274His)
+/. 1 c.835C>T r.(?) p.(Gln279*)
-?/. - c.843C>T r.(?) p.(Leu281=)
?/. 1 c.860T>C r.(?) p.(Leu287Pro)
+/. 1 c.866G>C r.(?) p.(Gly289Ala)
+/. 1 c.883G>A r.(?) p.(Gly295Ser)
?/. 1 c.890C>A r.(?) p.(Thr297Asn)
?/. 1 c.896A>G r.(?) p.(Gln299Arg)
?/. 1 c.899C>A r.(?) p.(Ala300Asp)
+/. - c.902G>A r.(?) p.(Arg301His)
?/. 1 c.929T>C r.(?) p.(Leu310Pro)
?/. 1 c.952A>G r.(?) p.(Ile318Val)
+/. - c.964G>A r.(?) p.(Glu322Lys)
?/. - c.973C>A r.(?) p.(Arg325Ser)
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