Transcript #00000397

Transcript name transcript variant 2
Gene name AFTPH (aftiphilin)
Chromosome 2
Transcript - NCBI ID NM_017657.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_060127.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.53A>G r.(?) p.(Asn18Ser)
?/? c.54T>C r.(=) p.(=)
?/? c.59C>G r.(?) p.(Ala20Gly)
?/? c.122G>A r.(?) p.(Gly41Asp)
?/? c.141C>A r.(?) p.(Phe47Leu)
?/? c.191A>G r.(?) p.(His64Arg)
?/? c.239G>A r.(?) p.(Ser80Asn)
?/? c.259G>T r.(?) p.(Gly87Cys)
?/? c.272A>G r.(?) p.(Asp91Gly)
?/? c.333C>A r.(=) p.(=)
?/? c.378T>C r.(=) p.(=)
?/? c.486T>G r.(=) p.(=)
?/? c.542T>G r.(?) p.(Ile181Ser)
?/? c.555G>A r.(=) p.(=)
?/? c.587G>A r.(?) p.(Gly196Glu)
?/? c.599T>C r.(?) p.(Leu200Pro)
?/? c.626G>A r.(?) p.(Arg209Gln)
?/? c.648C>G r.(?) p.(Ser216Arg)
?/? c.677G>A r.(?) p.(Ser226Asn)
?/? c.784C>T r.(?) p.(Arg262Trp)
?/? c.791A>G r.(?) p.(Asn264Ser)
?/? c.841T>G r.(?) p.(Leu281Val)
?/? c.892T>G r.(?) p.(Cys298Gly)
?/? c.901G>A r.(?) p.(Glu301Lys)
?/? c.910A>G r.(?) p.(Ile304Val)
?/? c.927T>C r.(=) p.(=)
?/? c.970G>A r.(?) p.(Glu324Lys)
?/? c.1014A>G r.(=) p.(=)
?/? c.1015G>A r.(?) p.(Asp339Asn)
?/? c.1018T>C r.(?) p.(Ser340Pro)
?/? c.1038C>T r.(=) p.(=)
?/? c.1054T>C r.(?) p.(Cys352Arg)
?/? c.1068A>G r.(=) p.(=)
?/? c.1077C>T r.(=) p.(=)
?/? c.1144T>G r.(?) p.(Ser382Ala)
?/? c.1170T>C r.(=) p.(=)
?/? c.1185C>T r.(=) p.(=)
?/? c.1222G>A r.(?) p.(Asp408Asn)
?/? c.1250G>C r.(?) p.(Ser417Thr)
?/? c.1264G>A r.(?) p.(Val422Met)
?/? c.1280T>C r.(?) p.(Ile427Thr)
?/? c.1291G>C r.(?) p.(Asp431His)
?/? c.1409A>G r.(?) p.(His470Arg)
?/? c.1424G>C r.(?) p.(Gly475Ala)
?/? c.1507A>C r.(?) p.(Thr503Pro)
?/? c.1536A>G r.(=) p.(=)
?/? c.1581A>C r.(?) p.(Lys527Asn)
?/? c.1591G>C r.(?) p.(Gly531Arg)
?/? c.1598A>G r.(?) p.(Glu533Gly)
?/? c.1630A>G r.(?) p.(Asn544Asp)
?/? c.1648A>T r.(?) p.(Asn550Tyr)
?/? c.1649A>G r.(?) p.(Asn550Ser)
?/? c.1687T>G r.(?) p.(Ser563Ala)
?/? c.1693G>T r.(?) p.(Gly565Cys)
?/? c.1726G>C r.(?) p.(Glu576Gln)
?/? c.1768G>A r.(?) p.(Asp590Asn)
?/? c.1781C>G r.(?) p.(Thr594Ser)
?/? c.1785A>G r.(=) p.(=)
?/? c.1796G>A r.(?) p.(Arg599Gln)
?/? c.1833T>C r.(=) p.(=)
?/? c.1858A>G r.(?) p.(Thr620Ala)
?/? c.1860G>A r.(=) p.(=)
?/? c.1895T>G r.(?) p.(Val632Gly)
?/? c.1905C>T r.(=) p.(=)
?/? c.1925C>T r.(?) p.(Thr642Ile)
?/? c.1935+26T>A r.(=) p.(=)
?/? c.1935+29G>T r.(=) p.(=)
?/? c.1936-50_1936-48del r.(=) p.(=)
?/? c.1936-45T>C r.(=) p.(=)
?/? c.1936-20_1936-19insG r.(=) p.(=)
?/? c.1936-7G>C r.(=) p.(=)
?/? c.1936-6A>T r.(=) p.(=)
?/? c.1972G>A r.(?) p.(Ala658Thr)
?/? c.2087+29T>C r.(=) p.(=)
?/? c.2088-25del r.(=) p.(=)
?/? c.2088-23T>C r.(=) p.(=)
?/? c.2126A>G r.(?) p.(His709Arg)
?/? c.2136T>C r.(=) p.(=)
?/? c.2172C>T r.(=) p.(=)
?/? c.2215-30A>T r.(=) p.(=)
?/? c.2215-11C>T r.(=) p.(=)
?/? c.2215-10G>A r.(=) p.(=)
?/? c.2246T>C r.(?) p.(Ile749Thr)
?/? c.2271+3A>G r.spl? p.?
?/? c.2271+4A>C r.spl? p.?
?/? c.2271+14T>A r.(=) p.(=)
?/? c.2271+34A>G r.(=) p.(=)
?/? c.2271+53A>G r.(=) p.(=)
?/? c.2272-44C>T r.(=) p.(=)
?/? c.2272-14T>C r.(=) p.(=)
?/? c.2289C>G r.(=) p.(=)
?/? c.2337C>T r.(=) p.(=)
?/? c.2343G>C r.(?) p.(Gln781His)
?/? c.2374T>C r.(?) p.(Cys792Arg)
?/? c.2389T>G r.(?) p.(Phe797Val)
?/? c.2391C>G r.(?) p.(Phe797Leu)
?/? c.2394+37G>A r.(=) p.(=)
?/? c.2394+42T>C r.(=) p.(=)
?/? c.2395-20T>G r.(=) p.(=)
?/? c.2439T>C r.(=) p.(=)
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