Transcript #00000293 (NM_005910.5, MAPT gene)

Transcript name microtubule associated protein tau, transcript variant 2
Gene name MAPT (microtubule-associated protein tau)
Chromosome 17
Transcript - NCBI ID NM_005910.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_005901.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

78 entries on 1 page. Showing entries 1 - 78.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
./. 10 c.? r.exon 10 skipping P.? - -
./. 2 c.14G>A r.(?) p.(Arg5His) - -
./. 3 c.163G>C r.(?) p.(Gly55Arg) - -
./. 4 c.224T>C r.(?) p.(Val75Ala) - -
./. 7 c.454G>A r.(?) p.(Ala152Thr) - -
./. 7 c.454G>A r.(?) p.(Ala152Thr) - -
./. 7 c.454G>A r.(?) p.(Ala152Thr) - -
./. 7 c.454G>A r.(?) p.(Ala152Thr) - -
./. 7 c.454G>A r.(?) p.(Ala152Thr) - -
./. 8 c.770A>C r.(?) p.(Lys257Thr) - -
./. 8 c.778A>G r.(?) p.(Ile260Val) - -
./. 8 c.796C>G r.(?) p.(Leu266Val) - -
./. 8 c.815G>T r.(?) p.(Gly272Val) - -
./. 8 c.817G>C r.(?) p.(Gly273Arg) - -
./. 9 c.837T>A r.(?) p.(Asn279Lys) - -
./. 9 c.837T>A r.(?) p.(Asn279Lys) - -
./. 9 c.837T>A r.(?) p.(Asn279Lys) - -
./. 9 c.837T>A r.(?) p.(Asn279Lys) - -
./. 9 c.837T>A r.(?) p.(Asn279Lys) - -
./. 10 c.838_840delAAG r.(?) p.(Lys280del) - -
./. 9 c.851T>G r.(?) p.(Leu284Arg) - -
./. 9 c.886A>C r.(?) p.(Asn296His) - -
./. 9 c.886A>G r.(?) p.(Asn296Asp) - -
./. 9 c.888T>A r.(?) p.(Asn296Lys) - -
./. 9 c.888T>A r.(?) p.(Asn296Lys) - -
./. 9 c.901C>A r.(?) p.(Pro301Thr) - -
./. 9 c.901C>T r.(?) p.(Pro301Ser) - -
./. 9 c.901C>T r.(?) p.(Pro301Ser) - -
./. 9 c.902C>T r.(?) p.(Pro301Leu) - -
./. 9 c.902C>T r.(?) p.(Pro301Leu) - -
./. 9 c.902C>T r.(?) p.(Pro301Leu) - -
./. 9 c.902C>T r.(?) p.(Pro301Leu) - -
./. 9 c.902C>T r.(?) p.(Pro301Leu) - -
./. 9 c.902C>T r.(?) p.(Pro301Leu) - -
./. 9 c.902C>T r.(?) p.(Pro301Leu) - -
./. 9 c.902C>T r.(?) p.(Pro301Leu) - -
./. 9 c.903G>A r.(=) p.(=) - -
./. 9 c.908G>T r.(?) p.(Gly303Val) - -
./. 9 c.914G>A r.(?) p.(Ser305Asn) - -
./. 9 c.914G>A r.(?) p.(Ser305Asn) - -
./. 9 c.914G>T r.(?) p.(Ser305Ile) - -
./. IVS10 c.915+11T>C r.(=) p.(=) - -
./. IVS10 c.915+15A>C r.(=) p.(=) - -
./. IVS10 c.915+16C>T r.(=) p.(=) - -
./. 10 c.944T>G r.(?) p.(Leu315Arg) - -
./. 10 c.950A>T r.(?) p.(Lys317Met) - -
./. 10 c.959C>T r.(?) p.(Ser320Phe) - -
./. 10 c.994C>T r.(?) p.(Pro332Ser) - -
./. 11 c.1003G>A r.(?) p.(Gly335Ser) - -
./. 11 c.1004G>T r.(?) p.(Gly335Val) - -
./. 11 c.1007A>G r.(?) p.(Gln336Arg) - -
./. 11 c.1008G>T r.(?) p.(Gln336His) - -
./. 11 c.1009G>A r.(?) p.(Val337Met) - -
./. 11 c.1009G>A r.(?) p.(Val337Met) - -
./. 11 c.1009G>A r.(?) p.(Val337Met) - -
./. 11 c.1025A>T r.(?) p.(Glu342Val) - -
?/. 11 c.1043A>G r.(1043a>g) p.(Asp348Gly) - -
./. 11 c.1052A>G r.(?) p.(Gln351Arg) - -
./. 11 c.1066T>A r.(?) p.(Ser356Thr) - -
./. 11 c.1087G>A r.(?) p.(Val363Ile) - -
./. 11 c.1087G>A r.(?) p.(Val363Ile) - -
./. 11 c.1090C>T r.(?) p.(Pro364Ser) - -
./. 11 c.1096G>C r.(?) p.(Gly366Arg) - -
./. 11 c.1106A>T r.(?) p.(Lys369Ile) - -
./. 12 c.1165G>A r.(?) p.(Gly389Arg) - -
./. 12 c.1165G>C r.(?) p.(Gly389Arg) - -
./. 12 c.1165G>C r.(?) p.(Gly389Arg) - -
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - -
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - -
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - -
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - -
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - -
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - -
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - -
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - -
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - -
./. 8 c.1216C>T r.(?) p.(Arg406Trp) - -
./. 12 c.1280C>T r.(?) p.(Thr427Met) - -
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