Transcript #00025607 (NM_000220.4, KCNJ1 gene)

Transcript name transcript variant 1
Gene name KCNJ1 (potassium inwardly-rectifying channel, subfamily J, member 1)
Chromosome 11
Transcript - NCBI ID NM_000220.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000211.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 2021-04-13 09:26:17 +02:00 (CEST)
Date last edited N/A


Variants

57 entries on 1 page. Showing entries 1 - 57.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-24876T>C r.(?) p.(=)
-/. - c.102G>A r.(?) p.(Gly34=)
+/. - c.123del r.(?) p.(Arg41SerfsTer2)
+/. - c.123del r.(?) p.(Arg41SerfsTer2)
?/. - c.137A>G r.(?) p.(Asp46Gly)
+/. - c.146G>A r.(?) p.(Cys49Tyr)
+/. - c.158T>G r.(?) p.(Phe53Cys)
+/. - c.220G>T r.(?) p.(Asp74Tyr)
-?/. - c.228G>A r.(?) p.(Lys76=)
+/. - c.235T>C r.(?) p.(Tyr79His)
+/. - c.271del r.(?) p.(Ser91ValfsTer12)
?/. - c.297_299delinsCTT r.(?) p.(Trp99_Tyr100delinsCysPhe)
-/. - c.309G>A r.(?) p.(Ala103=)
+/. - c.329C>T r.(?) p.(Pro110Leu)
+/. - c.365T>A r.(?) p.(Val122Glu)
+/. - c.365T>A r.(?) p.(Val122Glu)
+/. - c.365T>A r.(?) p.(Val122Glu)
?/. - c.526G>A r.(?) p.(Gly176Arg)
+/. - c.548C>G r.(?) p.(Ser183Cys)
+/. - c.550del r.(?) p.(Arg184GlyfsTer16)
+/. - c.562C>T r.(?) p.(Arg188Cys)
+/. - c.634C>T r.(?) p.(Arg212Ter)
+/. - c.641C>T r.(?) p.(Ala214Val)
+/. - c.641C>T r.(?) p.(Ala214Val)
-?/. - c.651G>A r.(?) p.(Arg217=)
+/. - c.657C>G r.(?) p.(Ser219Arg)
+/. - c.658C>T r.(?) p.(Leu220Phe)
+/. - c.683G>A r.(?) p.(Gly228Glu)
+/. - c.683G>A r.(?) p.(Gly228Glu)
+?/. 2 c.827G>A r.(?) p.(Ser276Asn)
+/. - c.890T>C r.(?) p.(Leu297Ser)
+/. - c.890T>C r.(?) p.(Leu297Ser)
+/. - c.931C>T r.(?) p.(Arg311Trp)
+/. - c.944T>G r.(?) p.(Val315Gly)
+/. - c.944T>G r.(?) p.(Val315Gly)
+/. - c.959T>C r.(?) p.(Leu320Pro)
+/. - c.959T>C r.(?) p.(Leu320Pro)
?/. - c.968A>G r.(?) p.(Tyr323Cys)
+/. - c.996_999del r.(?) p.(Glu334GlyfsTer35)
+/. - c.1012C>T r.(?) p.(Arg338Ter)
+/. - c.1012C>T r.(?) p.(Arg338Ter)
+/. - c.1012C>T r.(?) p.(Arg338Ter)
+/. - c.1012C>T r.(?) p.(Arg338Ter)
+/. - c.1012C>T r.(?) p.(Arg338Ter)
-?/. - c.1013G>A r.(?) p.(Arg338Gln)
+/. - c.1058dup r.(?) p.(His354SerfsTer8)
+/. 2 c.1058dup r.(?) p.(His354Serfs*8)
+/. - c.1058dup r.(?) p.(His354Serfs*8)
-/. - c.1070T>C r.(?) p.(Met357Thr)
-?/. - c.1070T>C r.(?) p.(Met357Thr)
-/. - c.1070T>C r.(?) p.(Met357Thr)
?/. - c.1091A>G r.(?) p.(Asp364Gly)
-?/. - c.1091A>G r.(?) p.(Asp364Gly)
-/. - c.*16G>A r.(=) p.(=)
-/. - c.*73A>T r.(=) p.(=)
?/. - c.*597C>T r.(=) p.(=)
?/. - c.*597C>T r.(=) p.(=)
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