Transcript #00006175 (NM_004082.4, DCTN1 gene)

Transcript name transcript variant 1
Gene name DCTN1 (dynactin 1)
Chromosome 2
Transcript - NCBI ID NM_004082.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_004073.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

120 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-11829G>C r.(?) p.(=)
-?/. - c.18G>A r.(?) p.(Arg6=)
?/. - c.35C>T r.(?) p.(Thr12Met)
?/. - c.40A>G r.(?) p.(Ser14Gly)
?/. 2 c.43G>A r.(?) p.(Gly15Ser)
-?/. 2 c.45C>T r.(=) p.(=)
-?/. - c.60G>A r.(?) p.(Ala20=)
+/. - c.175G>A r.(?) p.(Gly59Ser)
+/. 2 c.175G>A r.(?) p.(Gly59Ser)
+/. - c.175G>A r.(?) p.(Gly59Ser)
-?/. 2 c.177C>T r.(=) p.(=)
?/. - c.196A>G r.(?) p.(Lys66Glu)
+/. 2 c.211G>A r.(?) p.(Gly71Arg)
+/. 2 c.211G>A r.(?) p.(Gly71Arg)
+/. 2 c.212G>A r.(?) p.(Gly71Glu)
+/. 2 c.212G>C r.(?) p.(Gly71Ala)
+/. 2 c.212G>C r.(?) p.(Gly71Ala)
+/. 2 c.212G>C r.(?) p.(Gly71Ala)
+/. 2 c.214A>C r.(?) p.(Thr72Pro)
+/. 2 c.221A>C r.(?) p.(Gln74Pro)
-?/. 2 c.260T>C r.(?) p.(Ile87Thr)
+?/. - c.279+2T>C r.spl p.?
-?/. - c.279+6C>G r.(=) p.(=)
-/. - c.280-42A>G r.(=) p.(=)
-/. 2i c.280-42A>G r.(=) p.(=)
-/. 2i c.280-42A>G r.(=) p.(=)
?/. - c.280-3C>T r.spl? p.?
-/. - c.359-80G>A r.(=) p.(=)
-?/. - c.420G>A r.(?) p.(Pro140=)
?/. - c.449C>G r.(?) p.(Pro150Arg)
?/. - c.574G>A r.(?) p.(Ala192Thr)
-/. - c.586A>G r.(?) p.(Ile196Val)
-?/. - c.586A>G r.(?) p.(Ile196Val)
-?/. - c.586A>G r.(?) p.(Ile196Val)
?/. - c.674G>A r.(?) p.(Arg225Gln)
-?/. - c.837G>A r.(?) p.(Ala279=)
-/. - c.859C>A r.(?) p.(Leu287Met)
-/. - c.859C>A r.(?) p.(Leu287Met)
-?/. - c.999C>T r.(?) p.(Asp333=)
-?/. - c.1062T>C r.(?) p.(Ala354=)
-?/. - c.1095G>A r.(?) p.(Glu365=)
-?/. - c.1242G>A r.(?) p.(Glu414=)
?/. - c.1360G>C r.(?) p.(Val454Leu)
?/. - c.1360G>C r.(?) p.(Val454Leu)
?/. - c.1373G>A r.(?) p.(Arg458Lys)
-?/. - c.1392+10G>A r.(=) p.(=)
-?/. - c.1393-6T>C r.(=) p.(=)
?/. - c.1436G>A r.(?) p.(Arg479His)
-?/. - c.1470C>T r.(?) p.(Asp490=)
?/. - c.1480G>A r.(?) p.(Ala494Thr)
?/. - c.1481C>T r.(?) p.(Ala494Val)
-/. - c.1484G>A r.(?) p.(Arg495Gln)
-/. - c.1484G>A r.(?) p.(Arg495Gln)
-?/. - c.1484G>A r.(?) p.(Arg495Gln)
-?/. 13 c.1484G>A r.(?) p.(Arg495Gln)
?/. - c.1504C>T r.(?) p.(Arg502Cys)
?/. - c.1573G>A r.(?) p.(Ala525Thr)
?/. - c.1584+3A>G r.spl? p.?
-?/. - c.1585-10C>A r.(=) p.(=)
-?/. - c.1585-4C>G r.spl? p.?
?/. - c.1595G>A r.(?) p.(Arg532Gln)
?/. - c.1595G>A r.(?) p.(Arg532Gln)
-/. - c.1605A>G r.(?) p.(Thr535=)
-/. - c.1605A>G r.(?) p.(Thr535=)
?/. - c.1667A>G r.(?) p.(Lys556Arg)
-/. - c.1701+56dup r.(=) p.(=)
+/. 16 c.1712T>C r.(?) p.(Met571Thr)
?/. - c.1742C>A r.(?) p.(Ala581Asp)
-?/. - c.1854+20T>A r.(=) p.(=)
?/. - c.2005C>T r.(?) p.(Arg669Cys)
-?/. - c.2019C>T r.(?) p.(Ala673=)
-?/. - c.2112A>G r.(?) p.(Glu704=)
-?/. - c.2185-6C>T r.(=) p.(=)
?/. - c.2209G>A r.(?) p.(Glu737Lys)
?/. - c.2213A>G r.(?) p.(Gln738Arg)
?/. - c.2258C>T r.(?) p.(Thr753Met)
?/. - c.2297G>A r.(?) p.(Arg766Gln)
?/. - c.2353C>T r.(?) p.(Arg785Trp)
+/. 21 c.2353C>T r.(?) p.(Arg785Trp)
?/. - c.2353C>T r.(?) p.(Arg785Trp)
-?/. - c.2432C>G r.(?) p.(Pro811Arg)
-/. - c.2448A>G r.(?) p.(Ala816=)
-/. - c.2448A>G r.(=) p.(=)
-?/. - c.2448A>G r.(?) p.(Ala816=)
-/. - c.2448A>G r.(?) p.(Ala816=)
?/. - c.2633A>G r.(?) p.(Tyr878Cys)
-?/. - c.2761-18C>T r.(=) p.(=)
?/. - c.2779C>T r.(?) p.(Arg927Trp)
?/. - c.2969G>A r.(?) p.(Arg990His)
+/. 25 c.2989C>T r.(?) p.(Arg997Trp)
-?/. - c.3123C>G r.(?) p.(Ser1041=)
?/. - c.3137A>G r.(?) p.(Glu1046Gly)
-?/. - c.3146G>A r.(?) p.(Arg1049Gln)
-?/. - c.3146G>A r.(?) p.(Arg1049Gln)
-?/. - c.3146G>A r.(?) p.(Arg1049Gln)
-?/. - c.3146G>A r.(?) p.(Arg1049Gln)
?/. - c.3250C>T r.(?) p.(Pro1084Ser)
+/. 28 c.3302G>A r.(?) p.(Arg1101Lys)
+/. 28 c.3302G>A r.(?) p.(Arg1101Lys)
-?/. - c.3309C>T r.(?) p.(His1103=)
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