Transcript #00010379 (NM_002241.4, KCNJ10 gene)

Transcript name potassium inwardly-rectifying channel, subfamily J, member 10
Gene name KCNJ10 (potassium inwardly-rectifying channel, subfamily J, member 10)
Chromosome 1
Transcript - NCBI ID NM_002241.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_002232.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

47 entries on 1 page. Showing entries 1 - 47.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/+? 1i c.-1+1G>T r.spl? p.?
?/. - c.32A>G r.(?) p.(Gln11Arg)
-?/. - c.53G>A r.(?) p.(Arg18Gln)
+?/+? 2 c.76C>T r.(?) p.(Arg26*)
?/. - c.148C>T r.(?) p.(Leu50Phe)
+/. - c.170C>T r.(?) p.(Thr57Ile)
+/+ 2 c.170C>T r.(?) p.(Thr57Ile)
+/+ 2 c.193C>T r.(?) p.(Arg65Cys)
+/+ 2 c.194G>C r.(?) p.(Arg65Pro)
+/+ 2 c.203T>C r.(?) p.(Leu68Pro)
?/. - c.208C>T r.(?) p.(Leu70Phe)
-?/. - c.219G>A r.(?) p.(Ala73=)
+?/+? 2 c.221C>T r.(?) p.(Thr74Ile)
+/+ 2 c.224T>G r.(?) p.(Phe75Cys)
+/+ 2 c.225T>G r.(?) p.(Phe75Leu)
+/+ 2 c.229G>C r.(?) p.(Gly77Arg)
-?/. - c.234A>G r.(?) p.(Thr78=)
-?/. - c.249C>T r.(?) p.(Gly83=)
+/+ 2 c.250G>A r.(?) p.(Val84Met)
+/+ 2 c.272del r.(?) p.(Val91Glyfs*107)
-?/. - c.300C>A r.(?) p.(Asp100Glu)
-?/. - c.300C>A r.(?) p.(Asp100Glu)
+/+ 2 c.385A>G r.(?) p.(Ile129Val)
?/. - c.401G>A r.(?) p.(Arg134His)
+/+ 2 c.418T>C r.(?) p.(Cys140Arg)
+/+ 2 c.491C>T r.(?) p.(Thr164Ile)
+/+ 2 c.500C>T r.(?) p.(Ala167Val)
+/+ 2 c.524G>A r.(?) p.(Arg175Gln)
?/. - c.539G>A r.(?) p.(Arg180His)
+/+ 2 c.581C>A r.(?) p.(Pro194His)
+/+ 2 c.595C>T r.(?) p.(Arg199*)
+/+ 2 c.611G>A r.(?) p.(Arg204His)
?/. - c.652C>T r.(?) p.(Leu218Phe)
-?/. - c.705T>C r.(?) p.(Asn235=)
-?/. - c.735C>G r.(?) p.(Asp245Glu)
+/+ 2 c.775del r.(?) p.(Val259*)
-/. - c.811C>T r.(?) p.(Arg271Cys)
-/. - c.811C>T r.(?) p.(Arg271Cys)
-?/. - c.846C>A r.(?) p.(Ile282=)
+/+ 2 c.889C>T r.(?) p.(Arg297Cys)
+/+ 2 c.1042C>T r.(?) p.(Arg348Cys)
?/. - c.1042C>T r.(?) p.(Arg348Cys)
?/. - c.1043G>A r.(?) p.(Arg348His)
?/. - c.1043G>A r.(?) p.(Arg348His)
+?/+? 2 c.1043G>A r.(?) p.(Arg348His)
-?/. - c.1092A>G r.(?) p.(Gln364=)
-?/. - c.1137C>G r.(?) p.(Val379=)
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