Transcript #00000233

Transcript name tuberous sclerosis 2, transcript variant 5
Gene name TSC2 (TSC complex subunit 2)
Chromosome 16
Transcript - NCBI ID NM_001114382.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001107854.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

834 entries on 9 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.17G>A r.(?) p.(Ser6Asn)
./. - c.39_64del r.(?) p.(Lys14Asnfs*12)
./. - c.96G>A r.(=) p.(=)
./. - c.135G>C r.(=) p.(=)
./. - c.138+6T>C r.(=) p.(=)
./. - c.138+13C>T r.(=) p.(=)
./. - c.138+13C>T r.(=) p.(=)
./. - c.139-46C>T r.(=) p.(=)
./. - c.139-34A>G r.(=) p.(=)
./. - c.139-22_139-20del r.(=) p.(=)
./. - c.152A>C r.(?) p.(Glu51Ala)
./. - c.152A>C r.(?) p.(Glu51Ala)
./. - c.153A>C r.(?) p.(Glu51Asp)
./. - c.223G>A r.(?) p.(Glu75Lys)
./. - c.223G>A r.(?) p.(Glu75Lys)
./. - c.223G>A r.(?) p.(Glu75Lys)
./. - c.225+25A>G r.(=) p.(=)
./. - c.225+25_225+26del r.(=) p.(=)
./. - c.225+38T>A r.(=) p.(=)
./. - c.225+41A>G r.(=) p.(=)
./. - c.226-44C>A r.(=) p.(=)
./. - c.226-23G>A r.(=) p.(=)
./. - c.226-22C>T r.(=) p.(=)
./. - c.228C>T r.(=) p.(=)
./. - c.228C>T r.(=) p.(=)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.251C>T r.(?) p.(Ala84Val)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.255C>T r.(=) p.(=)
./. - c.272C>T r.(?) p.(Pro91Leu)
./. - c.272C>T r.(?) p.(Pro91Leu)
./. - c.272C>T r.(?) p.(Pro91Leu)
./. - c.272C>T r.(?) p.(Pro91Leu)
./. - c.272C>T r.(?) p.(Pro91Leu)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.275A>T r.(?) p.(Glu92Val)
./. - c.336+32C>T r.(=) p.(=)
./. - c.336+32C>T r.(=) p.(=)
./. - c.336+32C>T r.(=) p.(=)
./. - c.336+32C>T r.(=) p.(=)
./. - c.336+32C>T r.(=) p.(=)
./. - c.336+32C>T r.(=) p.(=)
./. - c.336+32C>T r.(=) p.(=)
./. - c.336+32C>T r.(=) p.(=)
./. - c.336+32C>T r.(=) p.(=)
./. - c.336+32C>T r.(=) p.(=)
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9     Next › Last »