Transcript #00000008

Transcript name BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
Gene name BAP1 (BRCA1 associated protein 1)
Chromosome 3
Transcript - NCBI ID NM_004656.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004647.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-16G>A r.(=) p.(=)
./. - c.37+19G>A r.(=) p.(=)
./. - c.37+26G>T r.(=) p.(=)
./. - c.37+31G>C r.(=) p.(=)
./. - c.37+31G>C r.(=) p.(=)
./. - c.37+31G>C r.(=) p.(=)
./. - c.37+31G>C r.(=) p.(=)
./. - c.38-20C>T r.(=) p.(=)
./. - c.38-20C>T r.(=) p.(=)
./. - c.67+33T>C r.(=) p.(=)
./. - c.67+46C>T r.(=) p.(=)
./. - c.67+49T>G r.(=) p.(=)
./. - c.67+49T>G r.(=) p.(=)
./. - c.68-48A>T r.(=) p.(=)
./. - c.68-48A>T r.(=) p.(=)
./. - c.68-48A>T r.(=) p.(=)
./. - c.68-48A>T r.(=) p.(=)
./. - c.68-48A>T r.(=) p.(=)
./. - c.68-43T>G r.(=) p.(=)
./. - c.72C>A r.(=) p.(=)
./. - c.121G>A r.(?) p.(Gly41Ser)
./. - c.121G>A r.(?) p.(Gly41Ser)
./. - c.122+12T>C r.(=) p.(=)
./. - c.122+21_122+22insG r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-48T>G r.(=) p.(=)
./. - c.123-29G>T r.(=) p.(=)
./. - c.125C>T r.(?) p.(Pro42Leu)
./. - c.181A>T r.(?) p.(Lys61*)
./. - c.190A>G r.(?) p.(Thr64Ala)
./. - c.285C>T r.(=) p.(=)
./. - c.315C>T r.(=) p.(=)
./. - c.333C>T r.(=) p.(=)
./. - c.333C>T r.(=) p.(=)
./. - c.376-50C>T r.(=) p.(=)
./. - c.376-50C>T r.(=) p.(=)
./. - c.376-50C>T r.(=) p.(=)
./. - c.376-50C>T r.(=) p.(=)
./. - c.376-50C>T r.(=) p.(=)
./. - c.376-50C>T r.(=) p.(=)
./. - c.437+23_437+24insTGGGAGCTG r.(=) p.(=)
./. - c.501G>A r.(=) p.(=)
./. - c.501G>A r.(=) p.(=)
./. - c.501G>A r.(=) p.(=)
./. - c.501G>A r.(=) p.(=)
./. - c.501G>A r.(=) p.(=)
./. - c.501G>A r.(=) p.(=)
./. - c.501G>A r.(=) p.(=)
./. - c.501G>A r.(=) p.(=)
./. - c.501G>A r.(=) p.(=)
./. - c.501G>A r.(=) p.(=)
./. - c.501G>A r.(=) p.(=)
./. - c.501G>A r.(=) p.(=)
./. - c.501G>A r.(=) p.(=)
./. - c.501G>A r.(=) p.(=)
./. - c.580+31T>G r.(=) p.(=)
./. - c.659+17T>A r.(=) p.(=)
./. - c.659+22T>A r.(=) p.(=)
./. - c.660-40G>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.660-26T>A r.(=) p.(=)
./. - c.705C>T r.(=) p.(=)
./. - c.720G>A r.(=) p.(=)
./. - c.720G>A r.(=) p.(=)
./. - c.783G>A r.(=) p.(=)
./. - c.783G>A r.(=) p.(=)
./. - c.783+2T>C r.spl? p.?
./. - c.783+12T>G r.(=) p.(=)
./. - c.783+15T>G r.(=) p.(=)
./. - c.944A>C r.(?) p.(Glu315Ala)
./. - c.944A>C r.(?) p.(Glu315Ala)
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