Transcript #00001354

Transcript name ataxin 3-like
Gene name ATXN3L (ataxin 3-like)
Chromosome X
Transcript - NCBI ID NM_001135995.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001129467.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

33 entries on 1 page. Showing entries 1 - 33.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-35C>T r.(=) p.(=)
?/? c.-14C>T r.(=) p.(=)
?/? c.-1C>T r.(=) p.(=)
?/? c.76G>T r.(?) p.(Glu26*)
?/? c.82T>C r.(?) p.(Phe28Leu)
?/? c.177T>C r.(=) p.(=)
?/? c.298C>G r.(?) p.(Gln100Glu)
?/? c.306C>T r.(=) p.(=)
?/? c.307G>A r.(?) p.(Gly103Ser)
?/? c.364A>G r.(?) p.(Thr122Ala)
?/? c.413C>T r.(?) p.(Ala138Val)
?/? c.425_428del r.(?) p.(Leu142Tyrfs*54)
?/? c.440G>A r.(?) p.(Cys147Tyr)
?/? c.461G>A r.(?) p.(Arg154Gln)
?/? c.491T>C r.(?) p.(Val164Ala)
?/? c.550G>A r.(?) p.(Glu184Lys)
?/? c.565C>T r.(?) p.(Pro189Ser)
?/? c.743G>A r.(?) p.(Arg248His)
?/? c.763A>G r.(?) p.(Met255Val)
?/? c.796C>T r.(?) p.(Leu266Phe)
?/? c.853G>A r.(?) p.(Asp285Asn)
?/? c.891G>A r.(=) p.(=)
?/? c.933C>A r.(?) p.(His311Gln)
?/? c.934G>A r.(?) p.(Glu312Lys)
?/? c.939G>A r.(=) p.(=)
?/? c.947_949del r.(?) p.(Thr316del)
?/? c.995G>A r.(?) p.(Gly332Asp)
?/? c.1003C>T r.(?) p.(Gln335*)
?/? c.1008C>T r.(=) p.(=)
?/? c.1026A>C r.(?) p.(Leu342Phe)
?/? c.1034_1038del r.(?) p.(Met345Lysfs*17)
?/? c.1045T>C r.(=) p.(=)
?/? c.*21A>G r.(=) p.(=)
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