Transcript #00000076

Transcript name Fanconi anemia, complementation group D2, transcript variant 2
Gene name FANCD2 (FA complementation group D2)
Chromosome 3
Transcript - NCBI ID NM_001018115.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001018125.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

480 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.28T>C r.(?) p.(Ser10Pro)
./. - c.28T>C r.(?) p.(Ser10Pro)
./. - c.28T>C r.(?) p.(Ser10Pro)
./. - c.64+51A>G r.(=) p.(=)
./. - c.65-18A>C r.(=) p.(=)
./. - c.78A>C r.(?) p.(Gln26His)
./. - c.78A>C r.(?) p.(Gln26His)
./. - c.78A>C r.(?) p.(Gln26His)
./. - c.78A>C r.(?) p.(Gln26His)
./. - c.78A>C r.(?) p.(Gln26His)
./. - c.78A>C r.(?) p.(Gln26His)
./. - c.78A>C r.(?) p.(Gln26His)
./. - c.78A>C r.(?) p.(Gln26His)
./. - c.78A>C r.(?) p.(Gln26His)
./. - c.78A>C r.(?) p.(Gln26His)
./. - c.86C>T r.(?) p.(Ser29Phe)
./. - c.182C>T r.(?) p.(Thr61Met)
./. - c.195G>C r.(?) p.(Gln65His)
./. - c.195G>C r.(?) p.(Gln65His)
./. - c.206-38T>C r.(=) p.(=)
./. - c.206-19T>C r.(=) p.(=)
./. - c.273+40T>G r.(=) p.(=)
./. - c.350G>C r.(?) p.(Cys117Ser)
./. - c.377+35C>T r.(=) p.(=)
./. - c.377+35C>T r.(=) p.(=)
./. - c.377+35C>T r.(=) p.(=)
./. - c.377+35C>T r.(=) p.(=)
./. - c.377+35C>T r.(=) p.(=)
./. - c.377+35C>T r.(=) p.(=)
./. - c.377+35C>T r.(=) p.(=)
./. - c.377+35C>T r.(=) p.(=)
./. - c.377+35C>T r.(=) p.(=)
./. - c.377+35C>T r.(=) p.(=)
./. - c.377+35C>T r.(=) p.(=)
./. - c.377+35C>T r.(=) p.(=)
./. - c.377+35C>T r.(=) p.(=)
./. - c.377+35C>T r.(=) p.(=)
./. - c.423G>T r.(=) p.(=)
./. - c.423G>T r.(=) p.(=)
./. - c.491+30G>A r.(=) p.(=)
./. - c.491+30G>A r.(=) p.(=)
./. - c.491+30G>A r.(=) p.(=)
./. - c.491+30G>A r.(=) p.(=)
./. - c.491+30G>A r.(=) p.(=)
./. - c.491+30G>A r.(=) p.(=)
./. - c.491+30G>A r.(=) p.(=)
./. - c.491+30G>A r.(=) p.(=)
./. - c.491+30G>A r.(=) p.(=)
./. - c.491+30G>A r.(=) p.(=)
./. - c.570+22C>T r.(=) p.(=)
./. - c.570+22C>T r.(=) p.(=)
./. - c.571-19A>T r.(=) p.(=)
./. - c.571-19A>T r.(=) p.(=)
./. - c.571-4G>A r.spl? p.?
./. - c.673G>A r.(?) p.(Ala225Thr)
./. - c.696-18T>G r.(=) p.(=)
./. - c.696-18T>G r.(=) p.(=)
./. - c.696-18T>G r.(=) p.(=)
./. - c.696-18T>G r.(=) p.(=)
./. - c.696-18T>G r.(=) p.(=)
./. - c.696-18T>G r.(=) p.(=)
./. - c.696-18T>G r.(=) p.(=)
./. - c.696-18T>G r.(=) p.(=)
./. - c.696-18T>G r.(=) p.(=)
./. - c.696-18T>G r.(=) p.(=)
./. - c.784-38A>G r.(=) p.(=)
./. - c.784-7T>A r.(=) p.(=)
./. - c.803A>G r.(?) p.(Asp268Gly)
./. - c.803A>G r.(?) p.(Asp268Gly)
./. - c.888+13A>G r.(=) p.(=)
./. - c.888+49A>G r.(=) p.(=)
./. - c.888+49A>G r.(=) p.(=)
./. - c.888+49A>G r.(=) p.(=)
./. - c.888+49A>G r.(=) p.(=)
./. - c.894T>C r.(=) p.(=)
./. - c.894T>C r.(=) p.(=)
./. - c.903T>A r.(=) p.(=)
./. - c.903T>A r.(=) p.(=)
./. - c.906G>A r.(=) p.(=)
./. - c.989+23del r.(=) p.(=)
./. - c.989+47C>T r.(=) p.(=)
./. - c.989+47C>T r.(=) p.(=)
./. - c.989+47C>T r.(=) p.(=)
./. - c.989+47C>T r.(=) p.(=)
./. - c.989+47C>T r.(=) p.(=)
./. - c.989+47C>T r.(=) p.(=)
./. - c.1098+4A>G r.spl? p.?
./. - c.1098+4A>G r.spl? p.?
./. - c.1098+4A>G r.spl? p.?
./. - c.1098+4A>G r.spl? p.?
./. - c.1098+4A>G r.spl? p.?
./. - c.1099-37G>A r.(=) p.(=)
./. - c.1099-34A>G r.(=) p.(=)
./. - c.1099-15C>T r.(=) p.(=)
./. - c.1116C>T r.(=) p.(=)
./. - c.1116C>T r.(=) p.(=)
./. - c.1116C>T r.(=) p.(=)
./. - c.1116C>T r.(=) p.(=)
./. - c.1116C>T r.(=) p.(=)
./. - c.1118C>T r.(?) p.(Ser373Leu)
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