Transcript #00016100 (NM_000293.2, PHKB gene)

Transcript name transcript variant 1
Gene name PHKB (phosphorylase kinase, beta)
Chromosome 16
Transcript - NCBI ID NM_000293.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000284.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

37 entries on 1 page. Showing entries 1 - 37.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.39G>A r.(?) p.(Trp13Ter)
?/. - c.400G>A r.(?) p.(Asp134Asn)
-?/. 4 c.400G>A r.(?) p.(Asp134Asn)
?/. - c.500A>G r.(?) p.(Tyr167Cys)
-/. - c.500A>G r.(?) p.(Tyr167Cys)
?/. - c.518A>G r.(?) p.(Asn173Ser)
-?/. - c.555G>T r.(?) p.(Met185Ile)
-/. - c.555G>T r.(?) p.(Met185Ile)
+/. - c.573_577del r.(?) p.(Gln191Hisfs*5)
-/. - c.775-6G>C r.(=) p.(=)
?/. - c.781T>G r.(?) p.(Ser261Ala)
+?/. - c.1068+2T>G r.spl? p.?
+/. - c.1090G>T r.(?) p.(Glu364*)
+/. 13 c.1257T>A r.(?) p.(Tyr419*)
+/. - c.1285C>T r.(?) p.(Arg429*)
+/. - c.1285C>T r.(?) p.(Arg429*)
-?/. - c.1746A>G r.(?) p.(Leu582=)
-?/. - c.1969C>A r.(?) p.(Gln657Lys)
?/. - c.1969C>A r.(?) p.(Gln657Lys)
+/. 20 c.1969C>T r.(?) p.(Gln657*)
+/. 20 c.1969C>T r.(?) p.(Gln657*)
+/. - c.1969C>T r.(?) p.(Gln657Ter)
+/. - c.1969C>T r.(?) p.(Gln657Ter)
?/. - c.2195A>G r.(?) p.(Asn732Ser)
-?/. - c.2309A>G r.(?) p.(Tyr770Cys)
-?/. - c.2309A>G r.(?) p.(Tyr770Cys)
?/. - c.2309A>G r.(?) p.(Tyr770Cys)
+/. - c.2427+3A>G r.spl? p.?
-?/. - c.2427+964del r.(=) p.(=)
?/. 26 c.2482C>G r.(?) p.(Pro828Ala)
+?/. 28 c.2867T>A r.(?) p.(Ile956Asn)
+?/. 28 c.2867T>A r.(?) p.(Ile956Asn)
+/. - c.2896-1G>T r.spl? p.?
-?/. - c.3085A>G r.(?) p.(Lys1029Glu)
?/. - c.3121C>T r.(?) p.(Arg1041Trp)
?/. - c.3266C>G r.(?) p.(Pro1089Arg)
?/. - c.*641C>A r.(=) p.(=)
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