Transcript #00000163

Transcript name perforin 1 (pore forming protein), transcript variant 2
Gene name PRF1 (perforin 1)
Chromosome 10
Transcript - NCBI ID NM_001083116.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001076585.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.3G>A r.? p.?
./. - c.46C>A r.(?) p.(Pro16Thr)
./. - c.54C>T r.(=) p.(=)
./. - c.54C>T r.(=) p.(=)
./. - c.54C>T r.(=) p.(=)
./. - c.54C>T r.(=) p.(=)
./. - c.55G>A r.(?) p.(Val19Ile)
./. - c.65C>T r.(?) p.(Pro22Leu)
./. - c.79G>A r.(?) p.(Ala27Thr)
./. - c.82C>T r.(?) p.(Arg28Cys)
./. - c.82C>T r.(?) p.(Arg28Cys)
./. - c.82C>T r.(?) p.(Arg28Cys)
./. - c.82C>T r.(?) p.(Arg28Cys)
./. - c.82C>T r.(?) p.(Arg28Cys)
./. - c.82C>T r.(?) p.(Arg28Cys)
./. - c.82C>T r.(?) p.(Arg28Cys)
./. - c.132C>T r.(=) p.(=)
./. - c.160C>T r.(?) p.(Arg54Cys)
./. - c.207C>T r.(=) p.(=)
./. - c.210C>T r.(=) p.(=)
./. - c.210C>T r.(=) p.(=)
./. - c.210C>T r.(=) p.(=)
./. - c.258G>C r.(?) p.(Gln86His)
./. - c.258G>C r.(?) p.(Gln86His)
./. - c.260G>A r.(?) p.(Arg87His)
./. - c.310C>T r.(?) p.(Arg104Cys)
./. - c.368G>A r.(?) p.(Arg123His)
./. - c.368G>A r.(?) p.(Arg123His)
./. - c.368G>A r.(?) p.(Arg123His)
./. - c.368G>A r.(?) p.(Arg123His)
./. - c.368G>A r.(?) p.(Arg123His)
./. - c.368G>A r.(?) p.(Arg123His)
./. - c.368G>A r.(?) p.(Arg123His)
./. - c.368G>A r.(?) p.(Arg123His)
./. - c.368G>A r.(?) p.(Arg123His)
./. - c.376C>T r.(?) p.(Arg126Cys)
./. - c.444C>T r.(=) p.(=)
./. - c.519G>A r.(=) p.(=)
./. - c.519G>A r.(=) p.(=)
./. - c.519G>A r.(=) p.(=)
./. - c.519G>A r.(=) p.(=)
./. - c.519G>A r.(=) p.(=)
./. - c.519G>A r.(=) p.(=)
./. - c.519G>A r.(=) p.(=)
./. - c.519G>A r.(=) p.(=)
./. - c.519G>A r.(=) p.(=)
./. - c.519G>A r.(=) p.(=)
./. - c.529C>T r.(?) p.(Arg177Cys)
./. - c.529C>T r.(?) p.(Arg177Cys)
./. - c.529C>T r.(?) p.(Arg177Cys)
./. - c.529C>T r.(?) p.(Arg177Cys)
./. - c.529C>T r.(?) p.(Arg177Cys)
./. - c.529C>T r.(?) p.(Arg177Cys)
./. - c.591C>T r.(=) p.(=)
./. - c.631G>A r.(?) p.(Ala211Thr)
./. - c.632C>T r.(?) p.(Ala211Val)
./. - c.666C>A r.(?) p.(His222Gln)
./. - c.682G>A r.(?) p.(Glu228Lys)
./. - c.718C>T r.(?) p.(Arg240Cys)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.755A>G r.(?) p.(Asn252Ser)
./. - c.819T>C r.(=) p.(=)
./. - c.820G>A r.(?) p.(Ala274Thr)
./. - c.853_855del r.(?) p.(Lys285del)
./. - c.903G>A r.(=) p.(=)
./. - c.1000G>A r.(?) p.(Gly334Ser)
./. - c.1000G>A r.(?) p.(Gly334Ser)
./. - c.1000G>A r.(?) p.(Gly334Ser)
./. - c.1000G>A r.(?) p.(Gly334Ser)
./. - c.1000G>A r.(?) p.(Gly334Ser)
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