Transcript #00000242

Transcript name xeroderma pigmentosum, complementation group A, transcript variant 1
Gene name XPA (XPA, DNA damage recognition and repair factor)
Chromosome 9
Transcript - NCBI ID NM_000380.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000371.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

35 entries on 1 page. Showing entries 1 - 35.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-22A>G r.(=) p.(=)
./. - c.-22A>G r.(=) p.(=)
./. - c.-22A>G r.(=) p.(=)
./. - c.-22A>G r.(=) p.(=)
./. - c.13G>T r.(?) p.(Asp5Tyr)
./. - c.19G>A r.(?) p.(Ala7Thr)
./. - c.66C>T r.(=) p.(=)
./. - c.122C>T r.(?) p.(Ala41Val)
./. - c.122C>T r.(?) p.(Ala41Val)
./. - c.122C>T r.(?) p.(Ala41Val)
./. - c.172+11C>T r.(=) p.(=)
./. - c.172+11C>T r.(=) p.(=)
./. - c.173-27G>A r.(=) p.(=)
./. - c.173-24G>T r.(=) p.(=)
./. - c.173-5_173-4insT r.spl? p.?
./. - c.273T>A r.(=) p.(=)
./. - c.283+6G>A r.(=) p.(=)
./. - c.283+6G>A r.(=) p.(=)
./. - c.283+40A>G r.(=) p.(=)
./. - c.284-17_284-14del r.(=) p.(=)
./. - c.390-35A>C r.(=) p.(=)
./. - c.390-13A>C r.(=) p.(=)
./. - c.390-13A>C r.(=) p.(=)
./. - c.555+11del r.(=) p.(=)
./. - c.556-58_556-53del r.(=) p.(=)
./. - c.556-58_556-53del r.(=) p.(=)
./. - c.556-58_556-53del r.(=) p.(=)
./. - c.556-46G>A r.(=) p.(=)
./. - c.556-25T>C r.(=) p.(=)
./. - c.619C>T r.(?) p.(Arg207*)
./. - c.673+20A>G r.(=) p.(=)
./. - c.674-2A>G r.spl? p.?
./. - c.716C>T r.(?) p.(Thr239Met)
./. - c.759A>T r.(?) p.(Glu253Asp)
./. - c.772_785del r.(?) p.(Arg258Tyrfs*5)
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