Transcript #00000018

Transcript name BRCA1 interacting protein C-terminal helicase 1
Gene name BRIP1 (BRCA1 interacting protein C-terminal helicase 1)
Chromosome 17
Transcript - NCBI ID NM_032043.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_114432.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.36G>T r.(=) p.(=)
./. - c.36G>T r.(=) p.(=)
./. - c.93+38T>C r.(=) p.(=)
./. - c.94-4A>T r.spl? p.?
./. - c.94-4A>T r.spl? p.?
./. - c.94-4A>T r.spl? p.?
./. - c.94-4A>T r.spl? p.?
./. - c.94-4A>T r.spl? p.?
./. - c.139C>G r.(?) p.(Pro47Ala)
./. - c.139C>G r.(?) p.(Pro47Ala)
./. - c.139C>G r.(?) p.(Pro47Ala)
./. - c.139C>G r.(?) p.(Pro47Ala)
./. - c.139C>G r.(?) p.(Pro47Ala)
./. - c.195A>G r.(=) p.(=)
./. - c.206-30T>C r.(=) p.(=)
./. - c.206-21T>C r.(=) p.(=)
./. - c.341C>T r.(?) p.(Pro114Leu)
./. - c.356A>G r.(?) p.(Asn119Ser)
./. - c.379+1G>A r.spl? p.?
./. - c.380-17T>A r.(=) p.(=)
./. - c.380-17T>A r.(=) p.(=)
./. - c.380-17T>A r.(=) p.(=)
./. - c.380-17_380-16insT r.(=) p.(=)
./. - c.380-17_380-16insT r.(=) p.(=)
./. - c.380-17_380-16insT r.(=) p.(=)
./. - c.380-17_380-16insT r.(=) p.(=)
./. - c.380-17_380-16insT r.(=) p.(=)
./. - c.380-17_380-16insT r.(=) p.(=)
./. - c.431C>A r.(?) p.(Ala144Glu)
./. - c.484C>T r.(?) p.(Arg162*)
./. - c.517C>T r.(?) p.(Arg173Cys)
./. - c.517C>T r.(?) p.(Arg173Cys)
./. - c.517C>T r.(?) p.(Arg173Cys)
./. - c.517C>T r.(?) p.(Arg173Cys)
./. - c.517C>T r.(?) p.(Arg173Cys)
./. - c.517C>T r.(?) p.(Arg173Cys)
./. - c.517C>T r.(?) p.(Arg173Cys)
./. - c.517C>T r.(?) p.(Arg173Cys)
./. - c.517C>T r.(?) p.(Arg173Cys)
./. - c.517C>T r.(?) p.(Arg173Cys)
./. - c.550G>T r.(?) p.(Asp184Tyr)
./. - c.550G>T r.(?) p.(Asp184Tyr)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.577G>A r.(?) p.(Val193Ile)
./. - c.584T>C r.(?) p.(Leu195Pro)
./. - c.587A>G r.(?) p.(Asn196Ser)
./. - c.627+44G>T r.(=) p.(=)
./. - c.670G>A r.(?) p.(Gly224Arg)
./. - c.679C>G r.(?) p.(Gln227Glu)
./. - c.702G>A r.(=) p.(=)
./. - c.736A>G r.(?) p.(Ile246Val)
./. - c.790C>T r.(?) p.(Arg264Trp)
./. - c.790C>T r.(?) p.(Arg264Trp)
./. - c.790C>T r.(?) p.(Arg264Trp)
./. - c.790C>T r.(?) p.(Arg264Trp)
./. - c.790C>T r.(?) p.(Arg264Trp)
./. - c.790C>T r.(?) p.(Arg264Trp)
./. - c.790C>T r.(?) p.(Arg264Trp)
./. - c.790C>T r.(?) p.(Arg264Trp)
./. - c.797C>T r.(?) p.(Thr266Met)
./. - c.797C>T r.(?) p.(Thr266Met)
./. - c.845C>G r.(?) p.(Thr282Ser)
./. - c.890A>G r.(?) p.(Lys297Arg)
./. - c.918+15T>A r.(=) p.(=)
./. - c.918+42A>C r.(=) p.(=)
./. - c.918+42A>C r.(=) p.(=)
./. - c.918+42A>C r.(=) p.(=)
./. - c.984_990del r.(?) p.(Phe328Leufs*8)
./. - c.984_990del r.(?) p.(Phe328Leufs*8)
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