Transcript #00000978 (NM_182896.2, ARL13B gene)

Transcript name transcript variant 1
Gene name ARL13B (ADP-ribosylation factor-like 13B)
Chromosome 3
Transcript - NCBI ID NM_182896.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_878899.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

47 entries on 1 page. Showing entries 1 - 47.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.-182674_*2240079del r.0? p.0?
?/. - c.5T>G r.(?) p.(Phe2Cys)
?/. - c.57_59+16dup r.spl p.(?)
?/. - c.60-7621dup r.(=) p.(=)
?/. - c.60-7088del r.(=) p.(=)
?/. - c.60-7088del r.(=) p.(=)
+/. - c.65T>G r.(?) p.(Val22Gly)
-?/. - c.105C>T r.(?) p.(Thr35=)
-/. - c.105C>T r.(?) p.(Thr35=)
?/. - c.106G>A r.(?) p.(Ala36Thr)
-?/. - c.106G>A r.(?) p.(Ala36Thr)
?/. - c.130+663G>A r.(=) p.(=)
?/. - c.130+726G>A r.(=) p.(=)
+/. 3 c.223G>A r.(?) p.(Gly75Arg)
+/. 3 c.223G>A r.(?) p.(Gly75Arg)
?/. - c.236G>A r.(?) p.(Arg79Gln)
+/. - c.246G>A r.(?) p.(Trp82*)
+/. 3 c.257A>G r.(?) p.(Tyr86Cys)
?/. - c.308G>T r.(?) p.(Arg103Ile)
+/. - c.461A>G r.(?) p.(Asn154Ser)
-/. - c.486+22del r.(=) p.(=)
-/. - c.486+22dup r.(=) p.(=)
?/. - c.502A>G r.(?) p.(Ile168Val)
-?/. - c.507G>A r.(?) p.(Ser169=)
+?/. - c.568A>G r.(?) p.(Ile190Val)
+/. - c.598C>T r.(?) p.(Arg200Cys)
?/. - c.599G>A r.(?) p.(Arg200His)
+/. - c.668dup r.(?) p.(Arg224AlafsTer11)
?/. - c.762_765dup r.(?) p.(Pro256GlufsTer12)
-?/. - c.831C>A r.(?) p.(Asn277Lys)
-?/. - c.896A>C r.(?) p.(Glu299Ala)
?/. - c.896A>C r.(?) p.(Glu299Ala)
+/. - c.1024+1G>A r.spl? p.?
-?/. - c.1024+10C>G r.(=) p.(=)
-/. - c.1043C>G r.(?) p.(Thr348Ser)
-/. - c.1043C>G r.(?) p.(Thr348Ser)
-?/. - c.1122A>C r.(?) p.(Pro374=)
-?/. - c.1128A>C r.(?) p.(Pro376=)
-/. - c.1141+65del r.(=) p.(=)
?/. - c.1142T>G r.(?) p.(Val381Gly)
-?/. - c.1151G>A r.(?) p.(Gly384Glu)
?/. - c.1151G>A r.(?) p.(Gly384Glu)
+/. 9 c.1169G>A r.(?) p.(Arg390Lys)
?/. - c.1186C>G r.(?) p.(Pro396Ala)
?/. - c.1186C>G r.(?) p.(Pro396Ala)
-?/. - c.1186C>G r.(?) p.(Pro396Ala)
-/. - c.1210+12G>C r.(=) p.(=)
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