Transcript #00016990

Transcript name XPA binding protein 2
Gene name XAB2 (XPA binding protein 2)
Chromosome 19
Transcript - NCBI ID NM_020196.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_064581.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

84 entries on 1 page. Showing entries 1 - 84.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.21C>T r.(=) p.(=)
./. - c.23C>G r.(?) p.(Ser8Trp)
./. - c.48C>T r.(=) p.(=)
./. - c.52-47G>A r.(=) p.(=)
./. - c.63C>T r.(=) p.(=)
./. - c.200+148C>T r.(=) p.(=)
./. - c.201-94C>G r.(=) p.(=)
./. - c.324+11C>T r.(=) p.(=)
./. - c.383_384insAGGCGTACCGCTGGAAGAACTCGACCAGCAGATCATGGTGCTGCGCGAACCCGGCTCGAT r.(?) p.(His128delinsGlnGlyValProLeuGluGluLeuAspGlnGlnIleMetValLeuArgGluProGlySerIle)
./. - c.519C>T r.(=) p.(=)
./. - c.522+46C>T r.(=) p.(=)
./. - c.522+53A>G r.(=) p.(=)
./. - c.522+69C>T r.(=) p.(=)
./. - c.522+71C>T r.(=) p.(=)
./. - c.522+118A>G r.(=) p.(=)
./. - c.523-87G>A r.(=) p.(=)
./. - c.523-48G>A r.(=) p.(=)
./. - c.617A>C r.(?) p.(Asp206Ala)
./. - c.636G>A r.(=) p.(=)
./. - c.657+18C>T r.(=) p.(=)
./. - c.657+19G>A r.(=) p.(=)
./. - c.657+21C>G r.(=) p.(=)
./. - c.696G>A r.(=) p.(=)
./. - c.741C>T r.(=) p.(=)
./. - c.747C>A r.(=) p.(=)
./. - c.786C>T r.(=) p.(=)
./. - c.790G>A r.(?) p.(Asp264Asn)
./. - c.822+16C>T r.(=) p.(=)
./. - c.822+30C>T r.(=) p.(=)
./. - c.822+48C>T r.(=) p.(=)
./. - c.823-132_823-131insGG r.(=) p.(=)
./. - c.823-129_823-128del r.(=) p.(=)
./. - c.864C>T r.(=) p.(=)
./. - c.869G>A r.(?) p.(Arg290Gln)
./. - c.944C>T r.(?) p.(Ser315Leu)
./. - c.967+5G>A r.spl? p.?
./. - c.968-70T>C r.(=) p.(=)
./. - c.968-69G>A r.(=) p.(=)
./. - c.968-30G>A r.(=) p.(=)
./. - c.1119+3A>G r.spl? p.?
./. - c.1119+51A>G r.(=) p.(=)
./. - c.1185C>T r.(=) p.(=)
./. - c.1239+9C>T r.(=) p.(=)
./. - c.1239+17G>A r.(=) p.(=)
./. - c.1239+103G>A r.(=) p.(=)
./. - c.1239+109G>A r.(=) p.(=)
./. - c.1240-129T>C r.(=) p.(=)
./. - c.1240-10G>A r.(=) p.(=)
./. - c.1289A>G r.(?) p.(Asp430Gly)
./. - c.1339G>A r.(?) p.(Glu447Lys)
./. - c.1371+22G>C r.(=) p.(=)
./. - c.1372-29G>A r.(=) p.(=)
./. - c.1380G>C r.(=) p.(=)
./. - c.1473C>T r.(=) p.(=)
./. - c.1491C>T r.(=) p.(=)
./. - c.1503+35C>T r.(=) p.(=)
./. - c.1533G>A r.(=) p.(=)
./. - c.1560C>T r.(=) p.(=)
./. - c.1617+32G>T r.(=) p.(=)
./. - c.1617+38_1617+40del r.(=) p.(=)
./. - c.1618-99T>A r.(=) p.(=)
./. - c.1618-77C>T r.(=) p.(=)
./. - c.1618-74C>T r.(=) p.(=)
./. - c.1675A>G r.(?) p.(Thr559Ala)
./. - c.1780+26_1780+28del r.(=) p.(=)
./. - c.1780+36C>G r.(=) p.(=)
./. - c.1780+40C>T r.(=) p.(=)
./. - c.1797C>T r.(=) p.(=)
./. - c.1860C>T r.(=) p.(=)
./. - c.1980G>A r.(=) p.(=)
./. - c.1983C>T r.(=) p.(=)
./. - c.2073C>T r.(=) p.(=)
./. - c.2094+6G>A r.(=) p.(=)
./. - c.2244C>T r.(=) p.(=)
./. - c.2266+15C>G r.(=) p.(=)
./. - c.2266+73T>A r.(=) p.(=)
./. - c.2267-51G>A r.(=) p.(=)
./. - c.2396+21G>A r.(=) p.(=)
./. - c.2397-28G>A r.(=) p.(=)
./. - c.2478C>T r.(=) p.(=)
./. - c.2507-44C>T r.(=) p.(=)
./. - c.2538C>T r.(=) p.(=)
./. - c.*15_*21del r.(=) p.(=)
./. - c.*50G>A r.(=) p.(=)
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