Transcript #00000078

Transcript name Fanconi anemia, complementation group E
Gene name FANCE (FA complementation group E)
Chromosome 6
Transcript - NCBI ID NM_021922.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_068741.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

155 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.-19G>C r.(=) p.(=)
./. - c.31G>A r.(?) p.(Ala11Thr)
./. - c.87_95del r.(?) p.(Leu33_Ala35del)
./. - c.95C>A r.(?) p.(Ala32Glu)
./. - c.95C>A r.(?) p.(Ala32Glu)
./. - c.103G>A r.(?) p.(Ala35Thr)
./. - c.199C>T r.(=) p.(=)
./. - c.199C>T r.(=) p.(=)
./. - c.199C>T r.(=) p.(=)
./. - c.222G>T r.(=) p.(=)
./. - c.229C>A r.(?) p.(Pro77Thr)
./. - c.229C>A r.(?) p.(Pro77Thr)
./. - c.248+7C>A r.(=) p.(=)
./. - c.248+7C>A r.(=) p.(=)
./. - c.248+7C>A r.(=) p.(=)
./. - c.248+7C>A r.(=) p.(=)
./. - c.248+7C>A r.(=) p.(=)
./. - c.248+7C>A r.(=) p.(=)
./. - c.248+7C>A r.(=) p.(=)
./. - c.248+7C>A r.(=) p.(=)
./. - c.248+7C>A r.(=) p.(=)
./. - c.248+40_248+41insG r.(=) p.(=)
./. - c.265C>T r.(?) p.(Arg89*)
./. - c.265C>T r.(?) p.(Arg89*)
./. - c.266G>T r.(?) p.(Arg89Leu)
./. - c.298T>A r.(?) p.(Ser100Thr)
./. - c.466C>T r.(=) p.(=)
./. - c.657del r.(?) p.(Arg219Serfs*77)
./. - c.733_735del r.(?) p.(Gly246del)
./. - c.733_735del r.(?) p.(Gly246del)
./. - c.733_735del r.(?) p.(Gly246del)
./. - c.733_735del r.(?) p.(Gly246del)
./. - c.733_735del r.(?) p.(Gly246del)
./. - c.733_735del r.(?) p.(Gly246del)
./. - c.733_735del r.(?) p.(Gly246del)
./. - c.733_735del r.(?) p.(Gly246del)
./. - c.733_735del r.(?) p.(Gly246del)
./. - c.862C>T r.(?) p.(Leu288Phe)
./. - c.862C>T r.(?) p.(Leu288Phe)
./. - c.901-44C>T r.(=) p.(=)
./. - c.901-36G>T r.(=) p.(=)
./. - c.901-36G>T r.(=) p.(=)
./. - c.901-36G>T r.(=) p.(=)
./. - c.922_923insC r.(?) p.(Val311Serfs*2)
./. - c.928C>G r.(?) p.(Pro310Ala)
./. - c.929C>A r.(?) p.(Pro310Gln)
./. - c.929C>A r.(?) p.(Pro310Gln)
./. - c.929C>A r.(?) p.(Pro310Gln)
./. - c.929C>A r.(?) p.(Pro310Gln)
./. - c.929C>A r.(?) p.(Pro310Gln)
./. - c.929C>A r.(?) p.(Pro310Gln)
./. - c.929C>T r.(?) p.(Pro310Leu)
./. - c.929C>T r.(?) p.(Pro310Leu)
./. - c.968A>G r.(?) p.(Gln323Arg)
./. - c.969+51C>A r.(=) p.(=)
./. - c.969+51C>A r.(=) p.(=)
./. - c.969+51C>A r.(=) p.(=)
./. - c.970-33G>A r.(=) p.(=)
./. - c.983G>A r.(?) p.(Cys328Tyr)
./. - c.983G>A r.(?) p.(Cys328Tyr)
./. - c.995A>G r.(?) p.(Gln332Arg)
./. - c.1018G>C r.(?) p.(Gly340Arg)
./. - c.1052T>C r.(?) p.(Leu351Pro)
./. - c.1112G>A r.(?) p.(Arg371Gln)
./. - c.1113+20C>T r.(=) p.(=)
./. - c.1113+20C>T r.(=) p.(=)
./. - c.1113+20C>T r.(=) p.(=)
./. - c.1113+23_1113+24insC r.(=) p.(=)
./. - c.1113+23_1113+24insC r.(=) p.(=)
./. - c.1113+23_1113+24insC r.(=) p.(=)
./. - c.1113+23_1113+24insC r.(=) p.(=)
./. - c.1113+23_1113+24insC r.(=) p.(=)
./. - c.1113+23_1113+24insC r.(=) p.(=)
./. - c.1113+23_1113+24insC r.(=) p.(=)
./. - c.1113+23_1113+24insC r.(=) p.(=)
./. - c.1113+30C>T r.(=) p.(=)
./. - c.1114-4G>A r.spl? p.?
./. - c.1198A>G r.(?) p.(Ser400Gly)
./. - c.1201G>A r.(?) p.(Ala401Thr)
./. - c.1238-35C>A r.(=) p.(=)
./. - c.1332G>A r.(=) p.(=)
./. - c.1333C>T r.(?) p.(Pro445Ser)
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