Transcript #00002849 (NM_012106.3, ARL2BP gene)

Transcript name ADP-ribosylation factor-like 2 binding protein
Gene name ARL2BP (ADP-ribosylation factor-like 2 binding protein)
Chromosome 16
Transcript - NCBI ID NM_012106.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_036238.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

29 entries on 1 page. Showing entries 1 - 29.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.32T>C r.(?) p.(Leu11Pro)
+/. - c.37_38del r.(?) p.(Phe13Leufs*5)
+/. - c.38+2T>G r.spl p.?
?/. - c.74T>A r.(?) p.(Val25Asp)
?/. - c.100G>C r.(?) p.(Asp34His)
+?/. - c.100+1G>C r.spl? p.?
+/. 2i c.101-1G>C r.[100_101ins[101-110_101-2;c],100_101ins[101-122_101-2;c],101-114del,101-108del,101_207del] p.[Asp34Alafs*9,Asp34Glufs*5]
+/. - c.101-1G>C r.spl p.?
+/. - c.134T>G r.(?) p.(Met45Arg)
?/. - c.137A>G r.(?) p.(Asp46Gly)
+?/. - c.156T>G r.(?) p.(Phe52Leu)
-?/. - c.207C>T r.(?) p.(Tyr69=)
-?/. - c.207C>T r.(?) p.(Tyr69=)
+/. - c.207+1G>A r.101_207del p.Asp35Phefs*8
+/. - c.207+1G>A r.spl? p.?
+?/. - c.207+1G>A r.spl p.(?)
+/. - c.207+1G>A r.spl? p.?
+/. - c.207+1G>T r.101_207del p.Asp35Phefs*8
+/. - c.207+1G>T r.101_207del p.Asp35Phefs*8
+?/. - c.293+5G>A r.[208_293del,208_293delins[293+63_293+260],293_294ins[gugaa;293+6_294-1]] p.[Ile70Alafs*3,Ile70Alafs*18,His99*]
+?/. - c.294-1G>C r.spl p.?
+/. - c.390+5G>A r.[294_390del,390_391ins[gtaaa;390+6_390+55],390_391ins[gtaaa;390+6_390+189],390_391ins[gtaaa;390+6_390+509]] p.[His99Lysfs*9,Glu131Glyfs*9]
-?/. - c.391-10T>A r.(=) p.(=)
?/. - c.391-10T>A r.(=) p.(=)
?/. - c.391-10T>A r.(=) p.(=)
?/. - c.391-10T>A r.(=) p.(=)
-?/. - c.485G>A r.(?) p.(Arg162Gln)
-?/. - c.485G>A r.(?) p.(Arg162Gln)
?/. - c.485G>A r.(?) p.(Arg162Gln)
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