Transcript #00000291 (NM_000548.4, TSC2 gene)

Transcript name transcript variant 1
Gene name TSC2 (tuberous sclerosis 2)
Chromosome 16
Transcript - NCBI ID NM_000548.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000539.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

41 entries on 1 page. Showing entries 1 - 41.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
./. 11 c.1108C>T r.(?) p.(Gln370*) - -
./. 12 c.1244C>T r.(?) p.(Ala415Val) - -
./. 13i c.1362-10C>A r.(=) p.(=) - -
./. 14 c.1413_1414delTG r.(?) p.(Val472Alafs*9) - -
./. 14 c.1432_1436delCAGTT r.(?) p.(Gln478Leufs*2) - -
./. 16i c.1717-23T>G r.(=) p.(=) - -
./. 15i_28 c.1717-4103_3356del r.? p.? - -
./. 17 c.1831C>T r.(?) p.(Arg611Trp) - -
./. 19 c.1964C>T r.(?) p.(Ser655Phe) - -
./. 18i_33i c.2098-86_4493+31del r.(?) p.(Glu700Phefs*25) - -
./. 20i c.2221-126C>T r.(=) p.(=) - -
./. 3i c.226-12T>A r.(=) p.(=) - -
./. 3i c.226-12T>A r.(=) p.(=) - -
./. 21 c.2356_2362delCGCGAGA r.(?) p.(Arg786Trpfs*41) - -
./. 24 c.2647C>T r.(?) p.(Gln883*) - -
./. 30i c.3610+1G>T r.spl? p.? - -
./. 30i c.3611-34_3611-9delinsCC r.(?) p.(?) - -
./. 31 c.3685C>T r.(?) p.(Gln1229*) - -
./. 33 c.3981_3982insA r.(?) p.(Arg1328Lysfs*86) - -
./. 34 c.4013_4014delCA r.(?) p.(Ser1338Cysfs*75) - -
./. 34 c.4051G>T r.(?) p.(Glu1351*) - -
./. 34 c.4180_4181delCT r.(?) p.(Leu1394Alafs*19) - -
./. 34 c.4238_4239insGGTTAAG r.(?) p.(Ala1416Glyfs*2) - -
./. 34 c.4258_4261delTCAG r.(?) p.(Ser1420Glyfs*55) - -
./. 35 c.4530_4537delTGGCGACG r.(?) p.(Phe1510Leufs*11) - -
./. 36 c.4660C>T r.(?) p.(Gln1554*) - -
./. 5i c.481+5G>A r.spl? p.? - -
./. 37i c.4850-1G>A r.spl? p.? - -
./. 38 c.4943T>C r.(?) p.(Ile1648Thr) - -
./. 39 c.5018_5020del r.(?) p.(Val1673_Thr1674delinsAla) - -
./. 40 c.5138G>A r.(?) p.(Arg1713His) - -
./. 40 c.5238_5255delCATCAAGCGGCTCCGCCA r.(?) p.(His1746_Arg1751del) - -
./. 40 c.5238_5255delCATCAAGCGGCTCCGCCA r.(?) p.(His1746_Arg1751del) - -
./. 41 c.5528G>A r.(?) p.(Arg1743Gln) - -
./. 9i c.848+1G>A r.spl? p.? - -
./. 9i c.848+281C>T r.(=) p.(=) - -
./. 9i c.849-15G>A r.(=) p.(=) - -
./. 10i c.976-15G>A r.(=) p.(=) - -
./. 10i c.976-15G>A r.(=) p.(=) - -
./. 10i c.976-15G>A r.(=) p.(=) - -
./. 10i c.976-15G>A r.(=) p.(=) - -
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