Transcript #00000002

Transcript name ataxia telangiectasia mutated
Gene name ATM (ATM serine/threonine kinase)
Chromosome 11
Transcript - NCBI ID NM_000051.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000042.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

688 entries on 7 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-30-13_-30-12insT r.spl? p.?
./. - c.51T>C r.(=) p.(=)
./. - c.115A>G r.(?) p.(Thr39Ala)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.162T>C r.(=) p.(=)
./. - c.184A>G r.(?) p.(Arg62Gly)
./. - c.185+29_185+32del r.(=) p.(=)
./. - c.309C>T r.(=) p.(=)
./. - c.320G>A r.(?) p.(Cys107Tyr)
./. - c.320G>A r.(?) p.(Cys107Tyr)
./. - c.331+48C>T r.(=) p.(=)
./. - c.331+48C>T r.(=) p.(=)
./. - c.331+48C>T r.(=) p.(=)
./. - c.331+48C>T r.(=) p.(=)
./. - c.331+48C>T r.(=) p.(=)
./. - c.331+48C>T r.(=) p.(=)
./. - c.331+51G>A r.(=) p.(=)
./. - c.334G>A r.(?) p.(Ala112Thr)
./. - c.334G>A r.(?) p.(Ala112Thr)
./. - c.370A>G r.(?) p.(Ile124Val)
./. - c.370A>G r.(?) p.(Ile124Val)
./. - c.473del r.(?) p.(Ile159Tyrfs*7)
./. - c.477A>G r.(?) p.(Ile159Met)
./. - c.496+18T>A r.(=) p.(=)
./. - c.496+18T>C r.(=) p.(=)
./. - c.496+37C>T r.(=) p.(=)
./. - c.497-37A>T r.(=) p.(=)
./. - c.609C>T r.(=) p.(=)
./. - c.609C>T r.(=) p.(=)
./. - c.609C>T r.(=) p.(=)
./. - c.662G>A r.(?) p.(Arg221Lys)
./. - c.663-37C>T r.(=) p.(=)
./. - c.749G>A r.(?) p.(Arg250Gln)
./. - c.757G>T r.(?) p.(Glu253*)
+/+ - c.757G>T r.(?) p.(Glu253*)
./. - c.902-26T>C r.(=) p.(=)
./. - c.903T>G r.(=) p.(=)
./. - c.903T>G r.(=) p.(=)
./. - c.943T>G r.(?) p.(Leu315Val)
./. - c.978A>G r.(?) p.(Ile326Met)
./. - c.998C>T r.(?) p.(Ser333Phe)
./. - c.998C>T r.(?) p.(Ser333Phe)
./. - c.998C>T r.(?) p.(Ser333Phe)
./. - c.1009C>T r.(?) p.(Arg337Cys)
./. - c.1010G>A r.(?) p.(Arg337His)
./. - c.1010G>A r.(?) p.(Arg337His)
./. - c.1010G>A r.(?) p.(Arg337His)
./. - c.1066-30G>A r.(=) p.(=)
./. - c.1066-6T>G r.(=) p.(=)
./. - c.1110C>T r.(=) p.(=)
./. - c.1215del r.(?) p.(Asn405Lysfs*15)
./. - c.1215del r.(?) p.(Asn405Lysfs*15)
./. - c.1215del r.(?) p.(Asn405Lysfs*15)
./. - c.1215del r.(?) p.(Asn405Lysfs*15)
+/+ - c.1215delT r.(?) p.(Asn405Lysfs*15)
./. - c.1229T>C r.(?) p.(Val410Ala)
./. - c.1229T>C r.(?) p.(Val410Ala)
./. - c.1229T>C r.(?) p.(Val410Ala)
./. - c.1229T>C r.(?) p.(Val410Ala)
./. - c.1229T>C r.(?) p.(Val410Ala)
./. - c.1236-17_1236-16del r.spl? p.?
./. - c.1236-17_1236-16del r.spl? p.?
./. - c.1236-17_1236-16del r.spl? p.?
./. - c.1236-17_1236-16del r.spl? p.?
./. - c.1236-17_1236-16del r.spl? p.?
./. - c.1236-17_1236-16del r.spl? p.?
./. - c.1236-17_1236-16del r.spl? p.?
./. - c.1236-17_1236-16del r.spl? p.?
./. - c.1236-17_1236-16del r.spl? p.?
./. - c.1236-17_1236-16del r.spl? p.?
./. - c.1236-17_1236-16del r.spl? p.?
./. - c.1236-17_1236-16del r.spl? p.?
./. - c.1236-17_1236-16del r.spl? p.?
./. - c.1236-17_1236-16del r.spl? p.?
./. - c.1236-16dup r.spl? p.?
./. - c.1236-16dup r.spl? p.?
./. - c.1236-16dup r.spl? p.?
./. - c.1236-16dup r.spl? p.?
./. - c.1236-16dup r.spl? p.?
./. - c.1236-16dup r.spl? p.?
./. - c.1236-16dup r.spl? p.?
./. - c.1236-16dup r.spl? p.?
./. - c.1236-16dup r.spl? p.?
./. - c.1236-16dup r.spl? p.?
./. - c.1236-16dup r.spl? p.?
Legend   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »