Transcript #00023816 (NM_001256468.1, KAT6B gene)

Transcript name transcript variant 2
Gene name KAT6B (K(lysine) acetyltransferase 6B)
Chromosome 10
Transcript - NCBI ID NM_001256468.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001243397.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

102 entries on 2 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)
?/. - 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.1196T>C r.(?) p.(Leu399Ser)
-?/. - c.1282A>C r.(?) p.(Asn428His)
+/. - c.1354C>T r.(?) p.(Arg452Ter)
?/. - c.1444+68C>A r.(=) p.(=)
?/. - c.1444+119T>G r.(=) p.(=)
-?/. - c.1444+219G>A r.(=) p.(=)
-?/. - c.1472A>T r.(?) p.(Gln491Leu)
-?/. - c.1670A>G r.(?) p.(Gln557Arg)
+/. - c.1702dup r.(?) p.(Cys568Leufs*2)
./. - c.1750C>T r.(?) p.(His584Tyr)
./. - c.1750C>T r.(?) p.(His584Tyr)
./. - c.1750C>T r.(?) p.(His584Tyr)
+/. - c.1798C>T r.(?) p.(Arg600Ter)
?/. - c.1986G>A r.(?) p.(Lys662=)
?/. - c.1993C>T r.(?) p.(Leu665Phe)
./. - c.2087T>A r.(?) p.(Leu696*)
?/. - c.2204A>G r.(?) p.(His735Arg)
?/. - c.2299_2300del r.(?) p.(Lys767Glufs*9)
+/. - c.2339T>A r.(?) p.(Leu780Ter)
?/. - c.2371T>C r.(?) p.(Cys791Arg)
-?/. - c.2472+3A>G r.spl? p.?
+/. - c.2598G>A r.(?) p.(Pro866=)
./. - c.2598G>A r.(=) p.(=)
./. - c.2598G>A r.(=) p.(=)
./. - c.2598G>A r.(=) p.(=)
+/. - c.2623C>T r.(?) p.(Arg875Ter)
?/. - c.2624G>A r.(?) p.(Arg875Gln)
-?/. - c.2682_2693del r.(?) p.(Asp894_Glu897del)
-?/. - c.2682_2693del r.(?) p.(Asp894_Glu897del)
+/. - c.2692G>T r.(?) p.(Glu898Ter)
-/. - c.2703_2705del r.(?) p.(Glu906del)
-?/. - c.2703_2714del r.(?) p.(Glu903_Glu906del)
-?/. - c.2706A>G r.(?) p.(Glu902=)
-?/. - c.2709A>C r.(?) p.(Glu903Asp)
-?/. - c.2715A>G r.(?) p.(Glu905=)
-/. - c.2761_2763del r.(?) p.(Glu921del)
-/. - c.2761_2763del r.(?) p.(Glu921del)
-/. - c.2761_2763dup r.(?) p.(Glu921dup)
-?/. - c.2761_2763dup r.(?) p.(Glu921dup)
-?/. - c.2761_2763dup r.(?) p.(Glu921dup)
./. - c.3057_3060del r.(?) p.(Thr1020Argfs*21)
-/. - c.3100G>T r.(?) p.(Ala1034Ser)
?/. - c.3100G>T r.(?) p.(Ala1034Ser)
+/. - c.3116-1G>A r.spl? p.?
-?/. - c.3169G>A r.(?) p.(Glu1057Lys)
-?/. - c.3180G>C r.(?) p.(Lys1060Asn)
./. - c.3187C>T r.(?) p.(Gln1063*)
-?/. - c.3379G>C r.(?) p.(Glu1127Gln)
-?/. - c.3443C>G r.(?) p.(Ala1148Gly)
?/. - c.3487G>T r.(?) p.(Asp1163Tyr)
-?/. - c.3525_3530del r.(?) p.(Glu1184_Glu1185del)
+?/. - c.3547G>T r.(?) p.(Glu1183*)
-/. - c.3548_3556del r.(?) p.(Glu1183_Glu1185del)
-/. - c.3548_3556del r.(?) p.(Glu1183_Glu1185del)
-/. - c.3548_3556dup r.(?) p.(Glu1183_Glu1185dup)
-?/. - c.3548_3556dup r.(?) p.(Glu1183_Glu1185dup)
-?/. - c.3569_3571dup r.(?) p.(Glu1190dup)
./. - c.3622G>T r.(?) p.(Glu1208*)
./. - c.3656_3657del r.(?) p.(Ser1219Cysfs*5)
-?/. - c.3662G>A r.(?) p.(Arg1221His)
+/. - c.3679G>T r.(?) p.(Glu1227Ter)
-/. - c.3729C>T r.(?) p.(Ala1243=)
-?/. - c.3875T>G r.(?) p.(Met1292Arg)
-/. - c.3946G>A r.(?) p.(Val1316Ile)
-?/. - c.3946G>A r.(?) p.(Val1316Ile)
-/. - c.3946G>A r.(?) p.(Val1316Ile)
-/. - c.3946G>A - -
./. - c.4023dup r.(?) p.(Thr1342Tyrfs*16)
./. - c.4043del r.(?) p.(Asn1348Thrfs*18)
-?/. - c.4082C>A r.(?) p.(Ala1361Asp)
-?/. - c.4286G>A r.(?) p.(Arg1429His)
-?/. - c.4286G>A r.(?) p.(Arg1429His)
-?/. - c.4286G>A r.(?) p.(Arg1429His)
./. - c.4466G>C r.(?) p.(Ser1489Thr)
./. - c.4492G>A r.(?) p.(Glu1498Lys)
+/. - c.4597C>T r.(?) p.(Gln1533Ter)
./. - c.4652_4661dup r.(?) p.(Gln1554Hisfs*41)
?/. - c.4730C>T r.(?) p.(Pro1577Leu)
-?/. - c.4731G>A r.(?) p.(Pro1577=)
?/. - c.4778C>A r.(?) p.(Thr1593Asn)
./. - c.4840C>T r.(?) p.(Arg1614*)
+?/. - c.4864del r.(?) p.(Ala1622LeufsTer19)
?/. - c.4934T>C r.(?) p.(Ile1645Thr)
+?/. 18 c.4943C>G r.(?) p.(Ser1648*)
+?/. - c.4943C>G r.(?) p.(Ser1648*)
+/. - c.5028del r.(?) p.(Gln1677Asnfs*19)
./. - c.5324delinsC r.(=) p.(=)
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