Transcript #00001113 (NM_004380.2, CREBBP gene)

Transcript name transcript variant 1
Gene name CREBBP (CREB binding protein)
Chromosome 16
Transcript - NCBI ID NM_004380.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004371.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

440 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+ _1_2i c.(?_-204)_(798-1_799+1)del r.0? p.0?
+/+ _1_2i c.(?_-204)_(798-1_799+1)del r.0? p.0?
+/+ _1_31_ c.(?_-204)_(*2664_?)del r.0 p.0
-?/. - c.36C>G r.(?) p.(Pro12=)
+?/. - c.37A>G r.(?) p.(Lys13Glu)
+/+ 1 c.37A>G r.(?) p.(Lys13Glu)
+/+? 1 c.40A>G r.(?) p.(Arg14Gly)
?/. - c.52A>T r.(?) p.(Ser18Cys)
+/+ 1 c.68C>A r.(?) p.(Ser23*)
+/+ 1i c.85+1G>T r.spl? p.(?)
+/+ 2 c.86_233del r.(?) p.(Asp29fs)
+/+ 1i_2i c.(85+1_86-1)_(798+1_799-1)del r.(del) p.(del)
+/+ 1i_2i c.(85+1_86-1)_(798+1_799-1)del r.(del) p.(del)
?/. - c.105C>G r.(?) p.(Asp35Glu)
+/+ 2 c.139delinsTCATCATGAGCTG r.(?) p.(Asn47delinsSerSer*)
-?/. - c.140A>G r.(?) p.(Asn47Ser)
?/. - c.140A>G r.(?) p.(Asn47Ser)
?/. - c.145G>C r.(?) p.(Gly49Arg)
+/. - c.180_181insTAAA r.(?) p.(Pro61Ter)
+/. - c.181_182insAAGGTTTAA r.(?) p.(Pro61delinsGlnGlyLeuThr)
-?/. - c.216G>T r.(?) p.(Glu72Asp)
+/+ 2 c.223C>T r.(?) p.(Arg75*)
?/. - c.224G>A r.(?) p.(Arg75Gln)
+/+ 2 c.236del r.(?) p.(Gly79AlafsTer8)
+/+ 2 c.277dup r.(?) p.(Ser93LysfsTer19)
-/. - c.293G>T r.(?) p.(Gly98Val)
+/. - c.299del r.(?) p.(Gly100Valfs*24)
+/+ 2 c.304C>T r.(?) p.(Gln102*)
+/+ 2 c.317dup r.(?) p.(Pro107AlafsTer5)
-?/. - c.333C>T r.(?) p.(Asn111=)
-?/. - c.383C>G r.(?) p.(Ser128Cys)
-?/. - c.383C>G r.(?) p.(Ser128Cys)
+?/. - c.386C>G r.(?) p.(Ser129Ter)
+/+ 2 c.406C>T r.(?) p.(Gln136*)
-?/. - c.435C>T r.(?) p.(Pro145=)
+/+ 2 c.472C>T r.(?) p.(Gln158*)
+/+ 2 c.474_493del r.(?) p.(Val159fs)
?/. - c.569A>G r.(?) p.(Asn190Ser)
-?/. - c.586A>G r.(?) p.(Ser196Gly)
?/. - c.659G>C r.(?) p.(Arg220Thr)
+/. - c.708dup r.(?) p.(Ser237GlnfsTer5)
?/. - c.712G>C r.(?) p.(Val238Leu)
-?/. - c.760G>A r.(?) p.(Ala254Thr)
-?/. 2i c.798+10005T>C r.(?) p.(=)
+/+ 3 c.810_811del r.(?) p.(Gly271GlufsTer10)
+/+ 3 c.840dup r.(?) p.(Ser281*)
?/. - c.865G>A r.(?) p.(Gly289Arg)
-?/. - c.879G>A r.(?) p.(Val293=)
+/. - c.880dup r.(?) p.(Asn294Lysfs*56)
+/. - c.881dup r.(?) p.(Asn294Lysfs*56)
+/+ 3 c.904_905del r.(?) p.(Ser302HisfsTer47)
-?/. - c.905G>A r.(?) p.(Ser302Asn)
-?/. - c.905G>A r.(?) p.(Ser302Asn)
+/+ 4 c.1011dup r.(?) p.(Gln338ThrfsTer12)
+/+ 4 c.1066C>T r.(?) p.(Gln356*)
+/+ 4 c.1069C>T r.(?) p.(Gln357*)
+/+ 4 c.1108C>T r.(?) p.(Arg370*)
+/+ 4 c.1108C>T r.(?) p.(Arg370*)
+/+ 4 c.1108C>T r.(?) p.(Arg370*)
+/+ 4 c.1108C>T r.(?) p.(Arg370*)
+/. 4 c.1108C>T r.(?) p.(Arg370* )
+/+ 4 c.1114C>T r.(?) p.(Gln372*)
-?/. - c.1149G>A r.(?) p.(Pro383=)
+?/. - c.1181A>C r.(?) p.(His394Pro)
+/+ 4i c.1216+1G>A r.spl? p.(?)
+/+ 5 c.1237C>T r.(?) p.(Arg413*)
+/+ 5 c.1237C>T r.(?) p.(Arg413*)
+/+ 5 c.1237C>T r.(?) p.(Arg413*)
+/. - c.1257G>A r.(?) p.(Trp419*)
+/+ 5 c.1270C>T r.(?) p.(Arg424*)
+/+ 5 c.1270C>T r.(?) p.(Arg424*)
+/+ 5 c.1270C>T r.(?) p.(Arg424*)
+/+ 5 c.1270C>T r.(?) p.(Arg424*)
+/+ 5 c.1318C>T r.(?) p.(Arg440*)
+/+ 6 c.1388_1395del r.(?) p.(Gly463GlufsTer7)
+/+ 6 c.1412_1415del r.(?) p.(Ser471ThrfsTer5)
+/+ 6 c.1481dup r.(?) p.(Asn494LysfsTer34)
+/+ 6 c.1483C>T r.(?) p.(Gln495*)
+/+ 6 c.1515_1521del r.(?) p.(Gly506AsnfsTer11)
+/+ 6 c.1522C>T r.(?) p.(Gln508*)
?/. - c.1571T>A r.(?) p.(Leu524Gln)
?/. - c.1640C>T r.(?) p.(Ser547Leu)
-?/. - c.1651C>A r.(?) p.(Leu551Ile)
-/. - c.1651C>A r.(?) p.(Leu551Ile)
+/+ 7 c.1655del r.(?) p.(Pro552ArgfsTer10)
+/+ 7i c.1676+1G>A r.spl? p.(?)
+/+ 8 c.1733del r.(?) p.(Pro578GlnfsTer11)
+/+ 8 c.1735dup r.(?) p.(Thr579AsnfsTer7)
+?/. - c.1799T>C r.(?) p.(Leu600Pro)
+/. 8 c.1802G>A r.(?) p.(Arg601Gln)
-?/. - c.1824C>T r.(?) p.(Leu608=)
+/+ 9 c.1891_1895del r.(?) p.(Ala631CysfsTer2)
-/. - c.1953T>C r.(=) p.(=)
-?/. - c.1953T>C r.(?) p.(Tyr651=)
+/+ 10 c.1984C>T r.(?) p.(Gln662*)
+/+ 10 c.2045dup r.(?) p.(Pro683AlafsTer43)
-?/. - c.2052C>T r.(?) p.(Ala684=)
-?/. - c.2088A>G r.(?) p.(Pro696=)
?/. - c.2141G>A r.(?) p.(Arg714His)
?/. - c.2149G>A r.(?) p.(Val717Ile)
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