Transcript #00010305 (NM_012330.3, KAT6B gene)

Transcript name transcript variant 1
Gene name KAT6B (K(lysine) acetyltransferase 6B)
Chromosome 10
Transcript - NCBI ID NM_012330.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_036462.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

212 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-615279_*1736057del r.? p.?
?/. - c.2T>C r.(?) p.(Met1?)
-?/. - c.262T>G r.(?) p.(Phe88Val)
-?/. - c.375C>T r.(?) p.(Ser125=)
-?/. - c.431A>C r.(?) p.(Asn144Thr)
+/+ 3 c.527dup r.(?) p.(Tyr176*)
+/+ 3i t(10;13)(q22.3;q34)(c.621+26310_621+26311) r.0? p.0?
+?/. - c.708_709del r.(?) p.(Ala238Argfs*5)
+?/. - c.847-2A>G r.spl p.?
+?/. - c.847-2A>G r.spl? p.?
+?/. - c.847-2A>G r.spl? p.?
+?/. - c.847-2A>G r.spl? p.?
+?/. - c.847-2A>G r.spl? p.?
+?/. - c.847-2A>G r.spl? p.?
+?/. - c.847-2A>G r.spl? p.?
?/. - c.928G>C r.(?) p.(Gly310Arg)
-/. - c.929-12A>G r.(=) p.(=)
+/. - c.1006C>T r.(?) p.(Arg336Ter)
+/. - c.1009C>T r.(?) p.(Arg337Ter)
+/. - c.1014T>G r.(?) p.(Tyr338*)
-?/. - c.1025T>C r.(?) p.(Ile342Thr)
+?/. - c.1030C>T r.(?) p.(Arg344Ter)
+?/. - c.1045_1049del r.(?) p.(Leu349Alafs*9)
+?/. - c.1061+1G>A r.spl? p.?
+?/. - c.1061+1G>A r.spl? p.?
?/. - c.1196T>C r.(?) p.(Leu399Ser)
-?/. - c.1282A>C r.(?) p.(Asn428His)
+/. - c.1354C>T r.(?) p.(Arg452Ter)
?/. - c.1512C>A r.(?) p.(Ser504Arg)
?/. - c.1563T>G r.(?) p.(Ser521Arg)
-?/. - c.1663G>A r.(?) p.(Gly555Arg)
-?/. - c.2021A>T r.(?) p.(Gln674Leu)
-?/. - c.2219A>G r.(?) p.(Gln740Arg)
+/. - c.2251dup r.(?) p.(Cys751Leufs*2)
+?/. - c.2299C>T r.(?) p.(His767Tyr)
+?/. - c.2299C>T r.(?) p.(His767Tyr)
+?/. - c.2299C>T r.(?) p.(His767Tyr)
+/. - c.2347C>T r.(?) p.(Arg783Ter)
?/. - c.2535G>A r.(?) p.(Lys845=)
?/. - c.2542C>T r.(?) p.(Leu848Phe)
+?/. - c.2629+2T>C r.(?) p.(?)
+?/. - c.2636T>A r.(?) p.(Leu879*)
?/. - c.2753A>G r.(?) p.(His918Arg)
?/. - c.2848_2849del r.(?) p.(Lys950Glufs*9)
+/. - c.2888T>A r.(?) p.(Leu963Ter)
?/. - c.2920T>C r.(?) p.(Cys974Arg)
?/. 18 c.2959T>C r.(?) p.(Trp987Arg)
+?/. - c.3004C>T r.(?) p.(Arg1002*)
+/+ 15 c.3018del r.(?) p.(Glu1007Argfs*5)
-?/. - c.3021+3A>G r.spl? p.?
+?/. 18 c.3040C>T r.(?) p.(Gln1014*)
+?/. - c.3046del r.(?) p.(Ser1016Alafs*98)
+?/. 16 c.3064G>T r.(?) p.(Glu1022*)
+?/. - c.3122C>A r.(?) p.(Ser1041*)
+/. - c.3147G>A r.(?) p.(Pro1049=)
+?/. 16 c.3147G>A r.(=) p.(=)
+?/. 16 c.3147G>A r.(spl?) p.(?)
+?/. 16 c.3147G>A r.(=) p.(=)
+?/. - c.3147G>A r.(=) p.(=)
+?/. - c.3147G>A r.(=) p.(=)
+?/. - c.3147G>A r.(=) p.(=)
+?/. - c.3152del r.(?) p.(Ser1051Thrfs*63)
+?/. - c.3172C>T r.(?) p.(Arg1058*)
+?/. - c.3172C>T r.(?) p.(Arg1058*)
+/. - c.3172C>T r.(?) p.(Arg1058Ter)
?/. - c.3173G>A r.(?) p.(Arg1058Gln)
+?/. - c.3202_3203del r.(?) p.(Ser1068Glnfs*2)
-?/. - c.3231_3242del r.(?) p.(Asp1077_Glu1080del)
-?/. - c.3231_3242del r.(?) p.(Asp1077_Glu1080del)
+/. - c.3241G>T r.(?) p.(Glu1081Ter)
-/. - c.3252_3254del r.(?) p.(Glu1089del)
-?/. - c.3252_3263del r.(?) p.(Glu1086_Glu1089del)
-?/. - c.3255A>G r.(?) p.(Glu1085=)
+?/. - c.3256G>T r.(?) p.(Glu1086*)
-?/. - c.3258A>C r.(?) p.(Glu1086Asp)
-?/. - c.3264A>G r.(?) p.(Glu1088=)
+?/. - c.3264dup r.(?) p.(Glu1089Argfs*3)
+?/. - c.3280del r.(?) p.(Glu1094Lysfs*20)
-/. - c.3310_3312del r.(?) p.(Glu1104del)
-/. - c.3310_3312del r.(?) p.(Glu1104del)
-/. - c.3310_3312dup r.(?) p.(Glu1104dup)
-?/. - c.3310_3312dup r.(?) p.(Glu1104dup)
-?/. - c.3310_3312dup r.(?) p.(Glu1104dup)
+/. - c.3349_3350del r.(?) p.(Gln1117ValfsTer19)
+?/. 17 c.3366_3369del r.(?) p.(Lys1124Glyfs*5)
+?/. - c.3401del r.(?) p.(Gly1134Valfs*11)
+?/. 17 c.3401_3402del r.(?) p.(Gly1134Alafs*2)
+?/. - c.3578_3585del r.(?) p.(Phe1193Serfs*23)
+?/. - c.3581del r.(?) p.(Gln1194Argfs*31)
+?/. 17 c.3598_3622dup r.(?) p.(Gly1208Glufs*19)
+?/. - c.3606_3609del r.(?) p.(Thr1203Argfs*21)
-/. - c.3649G>T r.(?) p.(Ala1217Ser)
?/. - c.3649G>T r.(?) p.(Ala1217Ser)
+?/. - c.3664+6T>A r.(=) p.(=)
+/. - c.3665-1G>A r.spl? p.?
+/+ 18 c.3681_3696del r.(?) p.(Asp1227Glufs*11)
-?/. - c.3718G>A r.(?) p.(Glu1240Lys)
-?/. - c.3729G>C r.(?) p.(Lys1243Asn)
+?/. - c.3736C>T r.(?) p.(Gln1246*)
+?/. 18 c.3769_3772del r.(?) p.(Lys1258Glyfs*13)
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