Transcript #00006307

Transcript name inhibitor of Bruton agammaglobulinemia tyrosine kinase
Gene name IBTK (inhibitor of Bruton tyrosine kinase)
Chromosome 6
Transcript - NCBI ID NM_015525.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_056340.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

82 entries on 1 page. Showing entries 1 - 82.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-96C>T r.(=) p.(=)
./. - c.-82A>G r.(=) p.(=)
./. - c.15G>A r.(?) p.(Met5Ile)
./. - c.322-87A>T r.(=) p.(=)
./. - c.322-7_322-4del r.spl? p.?
./. - c.324T>C r.(=) p.(=)
./. - c.419-97G>C r.(=) p.(=)
./. - c.543+21A>G r.(=) p.(=)
./. - c.654+84_654+85insT r.(=) p.(=)
./. - c.654+98G>A r.(=) p.(=)
./. - c.654+124T>C r.(=) p.(=)
./. - c.655-31_655-13del r.(=) p.(=)
./. - c.826-23C>A r.(=) p.(=)
./. - c.972G>A r.(=) p.(=)
./. - c.1125-8del r.(=) p.(=)
./. - c.1125-8dup r.(=) p.(=)
./. - c.1125-6A>T r.(=) p.(=)
./. - c.1125-4C>T r.spl? p.?
./. - c.1125-2A>T r.spl? p.?
./. - c.1192T>C r.(=) p.(=)
./. - c.1248+80G>A r.(=) p.(=)
./. - c.1249-65T>C r.(=) p.(=)
./. - c.1412G>A r.(?) p.(Ser471Asn)
./. - c.1427A>C r.(?) p.(Glu476Ala)
./. - c.1601+4T>C r.spl? p.?
./. - c.1601+74G>C r.(=) p.(=)
./. - c.1602-99T>C r.(=) p.(=)
./. - c.1837G>T r.(?) p.(Ala613Ser)
./. - c.2204+44C>T r.(=) p.(=)
./. - c.2205-61T>C r.(=) p.(=)
./. - c.2291+36G>A r.(=) p.(=)
./. - c.2292-50C>T r.(=) p.(=)
./. - c.2307C>T r.(=) p.(=)
./. - c.2509+89_2509+92del r.(=) p.(=)
./. - c.2510-101del r.(=) p.(=)
./. - c.2510-17T>C r.(=) p.(=)
./. - c.2611+62T>C r.(=) p.(=)
./. - c.2611+114C>T r.(=) p.(=)
./. - c.2612-65G>A r.(=) p.(=)
./. - c.2729+92A>C r.(=) p.(=)
./. - c.2730-112A>C r.(=) p.(=)
./. - c.2730-100G>C r.(=) p.(=)
./. - c.2730-86A>C r.(=) p.(=)
./. - c.2730-71C>T r.(=) p.(=)
./. - c.2748C>T r.(=) p.(=)
./. - c.2791-66A>C r.(=) p.(=)
./. - c.2791-61A>C r.(=) p.(=)
./. - c.2791-53del r.(=) p.(=)
./. - c.2791-53_2791-46del r.(=) p.(=)
./. - c.2791-50A>C r.(=) p.(=)
./. - c.2791-15T>G r.(=) p.(=)
./. - c.2912+57G>C r.(=) p.(=)
./. - c.2913-80T>G r.(=) p.(=)
./. - c.2913-46A>G r.(=) p.(=)
./. - c.3025+114T>C r.(=) p.(=)
./. - c.3026-106A>G r.(=) p.(=)
./. - c.3026-35A>G r.(=) p.(=)
./. - c.3188C>T r.(?) p.(Pro1063Leu)
./. - c.3339-101T>C r.(=) p.(=)
./. - c.3339-10T>C r.(=) p.(=)
./. - c.3421T>A r.(?) p.(Ser1141Thr)
./. - c.3431+143C>T r.(=) p.(=)
./. - c.3432-145G>C r.(=) p.(=)
./. - c.3432-139_3432-136del r.(=) p.(=)
./. - c.3432-133A>C r.(=) p.(=)
./. - c.3446A>G r.(?) p.(His1149Arg)
./. - c.3554C>T r.(?) p.(Ala1185Val)
./. - c.3575+45G>T r.(=) p.(=)
./. - c.3575+46C>T r.(=) p.(=)
./. - c.3575+2031C>T r.(=) p.(=)
./. - c.3575+2043_3575+2044insT r.(=) p.(=)
./. - c.3576-37A>G r.(=) p.(=)
./. - c.3576-21G>T r.(=) p.(=)
./. - c.3725+33C>T r.(=) p.(=)
./. - c.3726-1761T>C r.(=) p.(=)
./. - c.3726-1707G>A r.(=) p.(=)
./. - c.3726-106G>T r.(=) p.(=)
./. - c.3726-83A>G r.(=) p.(=)
./. - c.3797+104C>T r.(=) p.(=)
./. - c.3807A>G r.(=) p.(=)
./. - c.3924G>A r.(=) p.(=)
./. - c.3930+97_3930+101del r.(=) p.(=)
Legend