Transcript #00015818 (NM_002591.3, PCK1 gene)

Transcript name phosphoenolpyruvate carboxykinase 1 (soluble)
Gene name PCK1 (phosphoenolpyruvate carboxykinase 1 (soluble))
Chromosome 20
Transcript - NCBI ID NM_002591.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002582.3
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.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.7C>T r.(?) p.(Pro3Ser)
-/. - c.69A>G r.(?) p.(Leu23=)
-?/. - c.141C>T r.(?) p.(Asp47=)
-/. - c.179T>C r.(?) p.(Met60Thr)
?/. - c.179T>C r.(?) p.(Met60Thr)
-?/. - c.413C>T r.(?) p.(Thr138Ile)
-?/. - c.413C>T r.(?) p.(Thr138Ile)
-/. - c.453G>A r.(?) p.(Ser151=)
-/. - c.462A>G r.(?) p.(Ser154=)
-/. - c.489A>G r.(?) p.(Ser163=)
-/. - c.550G>C r.(?) p.(Val184Leu)
?/. - c.641C>T r.(?) p.(Pro214Leu)
+?/. - c.716C>T r.(?) p.(Ser239Leu)
-?/. - c.898C>T r.(?) p.(Leu300Phe)
+?/. - c.925G>A r.(?) p.(Gly309Arg)
+/. - c.925G>A r.(?) p.(Gly309Arg)
+/. - c.925G>A r.(?) p.(Gly309Arg)
+/. - c.962-1G>C r.spl? p.?
-?/. - c.1005C>T r.(?) p.(Val335=)
-?/. - c.1084G>C r.(?) p.(Glu362Gln)
-?/. - c.1102G>A r.(?) p.(Val368Ile)
-/. - c.1102G>A r.(?) p.(Val368Ile)
-?/. - c.1102G>A r.(?) p.(Val368Ile)
-/. - c.1140T>C r.(?) p.(Gly380=)
-/. - c.1140T>C r.(?) p.(Gly380=)
+?/. - c.1186+1G>T r.spl p.?
-/. - c.1319-12_1319-11dup r.(=) p.(=)
-/. - c.1319-11T>C r.(=) p.(=)
-/. - c.1319-6C>A r.(=) p.(=)
?/. - c.1375G>A r.(?) p.(Ala459Thr)
?/. - c.1448G>A r.(?) p.(Arg483Gln)
-?/. - c.1448G>A r.(?) p.(Arg483Gln)
-?/. - c.1642G>A r.(?) p.(Ala548Thr)
-?/. - c.1642G>A r.(?) p.(Ala548Thr)
-/. - c.1735A>C r.(?) p.(Ser579Arg)
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