Transcript #00000381 (NM_173694.4, ATP11C gene)

Transcript name transcript variant 1
Gene name ATP11C (ATPase, class VI, type 11C)
Chromosome X
Transcript - NCBI ID NM_173694.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_775965.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

34 entries on 1 page. Showing entries 1 - 34.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.50_58del r.(?) p.(Glu17_Arg19del)
?/. 5 c.342T>G r.(?) p.(Cys114Trp)
?/. - c.342T>G - p.(Cys114Trp)
?/. - c.342T>G - p.(Cys114Trp)
-?/. - c.580C>T r.(?) p.(Arg194Cys)
-?/. - c.580C>T r.(?) p.(Arg194Cys)
?/. - c.719+47del r.(=) p.(=)
?/. - c.719+47del r.(=) p.(=)
?/. 10 c.840A>T r.(?) p.(Lys280Asn)
-/. - c.923T>C r.(?) p.(Val308Ala)
?/. - c.1137G>T r.(?) p.(Trp379Cys)
-?/. - c.1188A>C r.(?) p.(Thr396=)
?/. 13 c.1303A>G r.(?) p.(Lys435Glu)
?/. 16 c.1653T>C r.(?) p.(=)
-?/. - c.1673A>G r.(?) p.(Glu558Gly)
?/. 17 c.1750A>G r.(?) p.(Thr584Ala)
-?/. - c.1750A>G r.(?) p.(Thr584Ala)
-?/. - c.1761T>C r.(?) p.(His587=)
-?/. - c.1826A>T r.(?) p.(Asp609Val)
?/. - c.1961+271T>C r.(=) p.(=)
?/. - c.1961+271T>C r.(=) p.(=)
?/. 19 c.2009G>A r.(?) p.(Gly670Asp)
?/. 19 c.2177G>A r.(?) p.(Arg726His)
?/. - c.2606A>G r.(?) p.(Tyr869Cys)
?/. - c.3008T>C r.(?) p.(Phe1003Ser)
?/. - c.3039+43A>G r.(=) p.(=)
?/. - c.3298-832dup r.(=) p.(=)
?/. - c.3298-830del r.(=) p.(=)
?/. - c.3298-830del r.(=) p.(=)
-?/. - c.*8C>T r.(=) p.(=)
?/. - c.*122C>T - p.(=)
?/. - c.*122C>T - p.(=)
?/. - c.*2123A>G r.(=) p.(=)
?/. - c.*2123A>G r.(=) p.(=)
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