Transcript #00000766

Transcript name ankyrin repeat and ubiquitin domain containing 1
Gene name ANKUB1 (ankyrin repeat and ubiquitin domain containing 1)
Chromosome 3
Transcript - NCBI ID NM_001144960.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001138432.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

45 entries on 1 page. Showing entries 1 - 45.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.39G>A r.(=) p.(=)
?/? c.46G>A r.(?) p.(Val16Ile)
?/? c.133C>T r.(?) p.(Arg45Trp)
?/? c.234+24G>A r.(=) p.(=)
?/? c.234+31A>G r.(=) p.(=)
?/? c.235-39C>T r.(=) p.(=)
?/? c.235-7C>T r.(=) p.(=)
?/? c.256T>C r.(?) p.(Tyr86His)
?/? c.296T>G r.(?) p.(Met99Arg)
?/? c.330T>G r.(=) p.(=)
?/? c.331G>T r.(?) p.(Asp111Tyr)
?/? c.345G>T r.(=) p.(=)
?/? c.370G>A r.(?) p.(Val124Met)
?/? c.380A>G r.(?) p.(Tyr127Cys)
?/? c.388C>T r.(?) p.(Arg130*)
?/? c.410T>C r.(?) p.(Met137Thr)
?/? c.420C>T r.(=) p.(=)
?/? c.451+45G>A r.(=) p.(=)
?/? c.451+46T>C r.(=) p.(=)
?/? c.452-30G>C r.(=) p.(=)
?/? c.452-14C>G r.(=) p.(=)
?/? c.471T>C r.(=) p.(=)
?/? c.517C>T r.(?) p.(Gln173*)
?/? c.536G>A r.(?) p.(Arg179His)
?/? c.567-20_567-19insC r.(=) p.(=)
?/? c.567-10A>T r.(=) p.(=)
?/? c.614T>C r.(?) p.(Ile205Thr)
?/? c.648G>A r.(=) p.(=)
?/? c.649C>T r.(?) p.(Arg217Trp)
?/? c.658G>A r.(?) p.(Glu220Lys)
?/? c.710C>A r.(?) p.(Ala237Glu)
?/? c.824A>G r.(?) p.(Gln275Arg)
?/? c.868G>A r.(?) p.(Val290Ile)
?/? c.869T>C r.(?) p.(Val290Ala)
?/? c.876T>C r.(=) p.(=)
?/? c.918T>G r.(?) p.(Ile306Met)
?/? c.928A>G r.(?) p.(Met310Val)
?/? c.929T>C r.(?) p.(Met310Thr)
?/? c.1156A>G r.(?) p.(Ser386Gly)
?/? c.1331C>T r.(?) p.(Thr444Ile)
?/? c.1479C>T r.(=) p.(=)
?/? c.1500G>A r.(=) p.(=)
?/? c.1588C>T r.(?) p.(Arg530*)
?/? c.1589G>A r.(?) p.(Arg530Gln)
?/? c.1622A>G r.(?) p.(Glu541Gly)
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