Transcript #00000179 (NM_003640.3, IKBKAP gene)

Transcript name inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Gene name IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein)
Chromosome 9
Transcript - NCBI ID NM_003640.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003631.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

85 entries on 1 page. Showing entries 1 - 85.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-301C>G r.(?) p.(=)
-/. - c.-126T>G r.(?) p.(=)
?/. - c.23G>A r.(?) p.(Arg8Gln)
?/. - c.95C>T r.(?) p.(Thr32Met)
-/. - c.189C>T r.(?) p.(Leu63=)
-?/. - c.209G>A r.(?) p.(Arg70His)
-?/. - c.286A>G r.(?) p.(Ser96Gly)
?/. - c.383C>T r.(?) p.(Thr128Ile)
-/. - c.441G>A r.(?) p.(Gln147=)
?/. - c.493A>G r.(?) p.(Arg165Gly)
-/. - c.545T>A r.(?) p.(Met182Lys)
-?/. - c.591A>G r.(?) p.(Gln197=)
?/. - c.614A>G r.(?) p.(Gln205Arg)
-/. - c.741-15dup r.(=) p.(=)
-/. - c.751A>G r.(?) p.(Ser251Gly)
?/. - c.751A>G r.(?) p.(Ser251Gly)
-/. - c.751A>G r.(?) p.(Ser251Gly)
-/. - c.819C>T r.(?) p.(Leu273=)
-/. - c.934G>A r.(?) p.(Glu312Lys)
?/. - c.934G>A r.(?) p.(Glu312Lys)
-/. - c.934G>A r.(?) p.(Glu312Lys)
-/. - c.958+7C>T r.(=) p.(=)
-/. - c.959-15C>T r.(=) p.(=)
-/. - c.959-15C>T r.(=) p.(=)
?/. - c.1073G>A r.(?) p.(Arg358Gln)
-?/. - c.1143G>A r.(?) p.(Val381=)
?/. - c.1189+539_1190-538del r.(=) p.(=)
?/. - c.1213C>T r.(?) p.(Arg405Trp)
?/. - c.1213C>T r.(?) p.(Arg405Trp)
-/. - c.1230G>A r.(?) p.(Pro410=)
-?/. - c.1353T>C r.(?) p.(Tyr451=)
-/. - c.1574G>A r.(?) p.(Arg525Gln)
-/. - c.1644-13T>C r.(=) p.(=)
-/. - c.1758T>G r.(?) p.(Pro586=)
?/. - c.1886G>A r.(?) p.(Arg629His)
-?/. - c.1911T>C r.(?) p.(Val637=)
-/. - c.1926G>A r.(?) p.(Thr642=)
-/. - c.1965C>T r.(?) p.(Thr655=)
-?/. - c.2026G>A r.(?) p.(Gly676Ser)
+?/. - c.2066G>A r.(?) p.(Arg689Gln)
+/. - c.2087G>C r.(?) p.(Arg696Pro)
+/. - c.2087G>C r.(?) p.(Arg696Pro)
+/. - c.2204+6T>C r.(=) p.(=)
+/. - c.2204+6T>C r.(=) p.(=)
?/. - c.2252A>G r.(?) p.(Asn751Ser)
?/. - c.2283+6T>G r.(=) p.(=)
-/. - c.2294G>A r.(?) p.(Gly765Glu)
-?/. - c.2364-17T>C r.(=) p.(=)
-/. - c.2446A>C r.(?) p.(Ile816Leu)
-/. - c.2490A>G r.(?) p.(Ile830Met)
-?/. - c.2543C>A r.(?) p.(Thr848Asn)
-?/. - c.2543C>A r.(?) p.(Thr848Asn)
?/. - c.2552T>G r.(?) p.(Leu851Arg)
-?/. - c.2587+14C>T r.(=) p.(=)
-/. - c.2587+14C>T r.(=) p.(=)
-/. - c.2631C>T r.(?) p.(Ala877=)
?/. - c.2671T>C r.(?) p.(Tyr891His)
+/. - c.2741C>T r.(?) p.(Pro914Leu)
?/. - c.2786C>G r.(?) p.(Thr929Ser)
?/. - c.2803A>T r.(?) p.(Thr935Ser)
?/. - c.2803A>T r.(?) p.(Thr935Ser)
?/. - c.2825G>A r.(?) p.(Arg942Gln)
?/. - c.2825G>A r.(?) p.(Arg942Gln)
-/. - c.2855A>T r.(?) p.(Lys952Ile)
-/. - c.2855A>T r.(?) p.(Lys952Ile)
?/. - c.3031C>T r.(?) p.(Arg1011Cys)
-/. - c.3037G>A r.(?) p.(Gly1013Ser)
-/. - c.3069G>C r.(?) p.(Leu1023=)
-/. - c.3069G>C r.(?) p.(Leu1023=)
?/. - c.3213G>C r.(?) p.(Glu1071Asp)
-/. - c.3214T>A r.(?) p.(Cys1072Ser)
-?/. - c.3222+14C>T r.(=) p.(=)
-?/. - c.3222+14C>T r.(=) p.(=)
-?/. - c.3280A>G r.(?) p.(Arg1094Gly)
?/. - c.3280A>G r.(?) p.(Arg1094Gly)
-/. - c.3285+9C>T r.(=) p.(=)
-?/. - c.3347-15A>G r.(=) p.(=)
-?/. - c.3347-15A>G r.(=) p.(=)
?/. - c.3424C>T r.(?) p.(Arg1142Ter)
-/. - c.3473C>T r.(?) p.(Pro1158Leu)
?/. - c.3572+5G>T r.spl? p.?
-?/. - c.3573-7C>G r.(=) p.(=)
-/. - c.3876T>G r.(?) p.(Thr1292=)
?/. - c.3979A>C r.(?) p.(Lys1327Gln)
-?/. - c.*5766G>C r.(=) p.(=)
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