Transcript #00000081

Transcript name Fanconi anemia, complementation group I, transcript variant 1
Gene name FANCI (FA complementation group I)
Chromosome 15
Transcript - NCBI ID NM_001113378.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001106849.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

375 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-19-9C>G r.(=) p.(=)
./. - c.84+39C>T r.(=) p.(=)
./. - c.84+39C>T r.(=) p.(=)
./. - c.84+39C>T r.(=) p.(=)
./. - c.85-31C>G r.(=) p.(=)
./. - c.85-31C>G r.(=) p.(=)
./. - c.92A>G r.(?) p.(Asn31Ser)
./. - c.157+25G>C r.(=) p.(=)
./. - c.157+25G>C r.(=) p.(=)
./. - c.158-37A>C r.(=) p.(=)
./. - c.241T>C r.(=) p.(=)
./. - c.286G>A r.(?) p.(Glu96Lys)
./. - c.286G>A r.(?) p.(Glu96Lys)
./. - c.288+10C>T r.(=) p.(=)
./. - c.288+10C>T r.(=) p.(=)
./. - c.446-37A>G r.(=) p.(=)
./. - c.446-32A>G r.(=) p.(=)
./. - c.446-32A>G r.(=) p.(=)
./. - c.446-32A>G r.(=) p.(=)
./. - c.446-32A>G r.(=) p.(=)
./. - c.446-32A>G r.(=) p.(=)
./. - c.446-32A>G r.(=) p.(=)
./. - c.446-32A>G r.(=) p.(=)
./. - c.446-6T>G r.(=) p.(=)
./. - c.446-6T>G r.(=) p.(=)
./. - c.446-6T>G r.(=) p.(=)
./. - c.504-49T>C r.(=) p.(=)
./. - c.504-49T>C r.(=) p.(=)
./. - c.504-49T>C r.(=) p.(=)
./. - c.504-49T>C r.(=) p.(=)
./. - c.504-49T>C r.(=) p.(=)
./. - c.504-49T>C r.(=) p.(=)
./. - c.504-49T>C r.(=) p.(=)
./. - c.504-49T>C r.(=) p.(=)
./. - c.546-48C>A r.(=) p.(=)
./. - c.546-4A>G r.spl? p.?
./. - c.593C>T r.(?) p.(Ala198Val)
./. - c.669+43C>A r.(=) p.(=)
./. - c.670-29del r.(=) p.(=)
./. - c.712A>G r.(?) p.(Ser238Gly)
./. - c.712A>G r.(?) p.(Ser238Gly)
./. - c.712A>G r.(?) p.(Ser238Gly)
./. - c.712A>G r.(?) p.(Ser238Gly)
./. - c.712A>G r.(?) p.(Ser238Gly)
./. - c.755+43C>A r.(=) p.(=)
./. - c.755+50T>C r.(=) p.(=)
./. - c.756-8T>C r.(=) p.(=)
./. - c.824T>C r.(?) p.(Ile275Thr)
./. - c.824T>C r.(?) p.(Ile275Thr)
./. - c.839A>G r.(?) p.(Lys280Arg)
./. - c.839A>G r.(?) p.(Lys280Arg)
./. - c.839A>G r.(?) p.(Lys280Arg)
./. - c.839A>G r.(?) p.(Lys280Arg)
./. - c.919C>G r.(?) p.(Pro307Ala)
./. - c.920C>T r.(?) p.(Pro307Leu)
./. - c.975+10T>A r.(=) p.(=)
./. - c.975+11A>T r.(=) p.(=)
./. - c.975+39T>C r.(=) p.(=)
./. - c.975+42_975+43insG r.(=) p.(=)
./. - c.975+42_975+43insG r.(=) p.(=)
./. - c.975+42_975+43insG r.(=) p.(=)
./. - c.975+42_975+43insG r.(=) p.(=)
./. - c.975+42_975+43insG r.(=) p.(=)
./. - c.975+42_975+43insG r.(=) p.(=)
./. - c.975+42_975+43insG r.(=) p.(=)
./. - c.975+42_975+43insG r.(=) p.(=)
./. - c.975+42_975+43insG r.(=) p.(=)
./. - c.975+42_975+43insG r.(=) p.(=)
./. - c.975+42_975+43insG r.(=) p.(=)
./. - c.975+42_975+43insG r.(=) p.(=)
./. - c.975+42_975+43insG r.(=) p.(=)
./. - c.975+42_975+43insGA r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43del r.(=) p.(=)
./. - c.975+43_975+44del r.(=) p.(=)
./. - c.975+43_975+44insAA r.(=) p.(=)
./. - c.975+43_975+44insAAA r.(=) p.(=)
./. - c.976-13A>T r.(=) p.(=)
./. - c.976-13A>T r.(=) p.(=)
./. - c.976-13A>T r.(=) p.(=)
./. - c.976-13A>T r.(=) p.(=)
./. - c.976-13A>T r.(=) p.(=)
./. - c.976-13A>T r.(=) p.(=)
./. - c.976-13A>T r.(=) p.(=)
./. - c.976-13A>T r.(=) p.(=)
./. - c.976-13A>T r.(=) p.(=)
./. - c.976-13A>T r.(=) p.(=)
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