Transcript #00005885

Transcript name transcript variant 1
Gene name ATXN1 (ataxin 1)
Chromosome 6
Transcript - NCBI ID NM_000332.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000323.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

60 entries on 1 page. Showing entries 1 - 60.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-969_-968insGAGGAG r.(=) p.(=)
./. - c.-968_-966del r.(=) p.(=)
./. - c.-968_-966dup r.(=) p.(=)
./. - c.-867G>A r.(=) p.(=)
./. - c.-729-148_-729-147del r.(=) p.(=)
./. - c.-729-95G>A r.(=) p.(=)
./. - c.-615+46C>T r.(=) p.(=)
./. - c.-615+85_-615+86insCC r.(=) p.(=)
./. - c.-615+87_-615+90del r.(=) p.(=)
./. - c.-615+112T>G r.(=) p.(=)
./. - c.-615+13500G>A r.(=) p.(=)
./. - c.51C>T r.(=) p.(=)
./. - c.158G>A r.(?) p.(Arg53Gln)
./. - c.474A>G r.(=) p.(=)
./. - c.556A>T r.(?) p.(Ser186Cys)
./. - c.609G>T r.(?) p.(Gln203His)
./. - c.621_629del r.(?) p.(Gln208_Gln210del)
./. - c.621_629dup r.(?) p.(Gln208_Gln210dup)
./. - c.623_624insGCAGCA r.(?) p.(Gln207_Gln208dup)
./. - c.623_624insGCAGCAGCA r.(?) p.(Gln206_Gln208dup)
./. - c.623_624insGCAGCAGCAGCAGCA r.(?) p.(Gln204_Gln208dup)
./. - c.623_624insTCA r.(?) p.(Gln207_Gln208insHis)
./. - c.624_626del r.(?) p.(Gln208del)
./. - c.624_626dup r.(?) p.(Gln208dup)
./. - c.627T>G r.(?) p.(His209Gln)
./. - c.627_628insCAG r.(?) p.(Gln210dup)
./. - c.627_629del r.(?) p.(His209del)
./. - c.627_650del r.(?) p.(His209_Gln216del)
./. - c.633T>G r.(?) p.(His211Gln)
./. - c.633_634insCAGCATCAG r.(?) p.(Gln212_Gln213insHisGlnGln)
./. - c.633_635del r.(?) p.(His211del)
./. - c.633_638del r.(?) p.(His211_Gln212del)
./. - c.636_637insCAT r.(?) p.(Gln212_Gln213insHis)
./. - c.639G>T r.(?) p.(Gln213His)
./. - c.642G>T r.(?) p.(Gln214His)
./. - c.645G>T r.(?) p.(Gln215His)
./. - c.645_646insCAT r.(?) p.(Gln215_Gln216insHis)
./. - c.645_646insCATCAGCAT r.(?) p.(Gln215_Gln216insHisGlnHis)
./. - c.671_672insGCAGCAGCA r.(?) p.(Gln223_Gln225dup)
./. - c.672_674del r.(?) p.(Gln225del)
./. - c.672_674dup r.(?) p.(Gln225dup)
./. - c.672_677del r.(?) p.(Gln224_Gln225del)
./. - c.672_677dup r.(?) p.(Gln224_Gln225dup)
./. - c.675_676insCAGCAGCAC r.(?) p.(Gln225_His226insGlnGlnHis)
./. - c.726C>G r.(=) p.(=)
./. - c.772G>T r.(?) p.(Gly258Cys)
./. - c.888C>T r.(=) p.(=)
./. - c.927T>C r.(=) p.(=)
./. - c.927T>G r.(=) p.(=)
./. - c.1207C>T r.(?) p.(Arg403Cys)
./. - c.1212A>G r.(=) p.(=)
./. - c.1399G>A r.(?) p.(Gly467Ser)
./. - c.1830C>T r.(=) p.(=)
./. - c.1871C>T r.(?) p.(Pro624Leu)
./. - c.1917+14G>T r.(=) p.(=)
./. - c.1917+38C>T r.(=) p.(=)
./. - c.2031A>G r.(=) p.(=)
./. - c.2142C>T r.(=) p.(=)
./. - c.2257C>T r.(?) p.(Pro753Ser)
./. - c.*148G>A r.(=) p.(=)
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