Transcript #00006794 (NM_001080463.1, DYNC2H1 gene)

Transcript name transcript variant 2
Gene name DYNC2H1 (dynein, cytoplasmic 2, heavy chain 1)
Chromosome 11
Transcript - NCBI ID NM_001080463.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001073932.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

306 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.21C>T r.(?) p.(Asp7=)
-/. - c.21C>T r.(?) p.(Asp7=)
-/. - c.195+7T>C r.(=) p.(=)
-?/. - c.195+7T>C r.(=) p.(=)
+/. - c.327C>G r.(?) p.(Tyr109Ter)
-?/. - c.371A>G r.(?) p.(Gln124Arg)
?/. - c.392A>G r.(?) p.(Asp131Gly)
-?/. - c.456A>G r.(?) p.(Ser152=)
+/. - c.536G>A r.(?) p.(Trp179Ter)
?/. - c.553C>G r.(?) p.(Arg185Gly)
-?/. - c.578A>G r.(?) p.(Glu193Gly)
-/. - c.645A>G r.(?) p.(Leu215=)
-/. - c.645A>G r.(?) p.(Leu215=)
+/. - c.729T>A r.(?) p.(Tyr243Ter)
?/. - c.872G>T r.(?) p.(Cys291Phe)
-/. - c.911A>T r.(?) p.(Gln304Leu)
-/. - c.911A>T r.(?) p.(Gln304Leu)
?/. - c.913G>A r.(?) p.(Val305Met)
-/. - c.1021C>T r.(?) p.(His341Tyr)
-/. - c.1021C>T r.(?) p.(His341Tyr)
-/. - c.1021C>T r.(?) p.(His341Tyr)
-?/. - c.1031T>A r.(?) p.(Phe344Tyr)
+/. - c.1151C>T r.(?) p.(Ala384Val)
+/. - c.1151C>T r.(?) p.(Ala384Val)
?/. - c.1157C>T r.(?) p.(Ser386Phe)
-/. - c.1233A>G r.(?) p.(Gln411=)
-?/. - c.1233A>G r.(?) p.(Gln411=)
-?/. - c.1249-6T>C r.(=) p.(=)
-?/. - c.1263C>A r.(?) p.(Phe421Leu)
+?/. - c.1288C>T r.(?) p.(Arg430Cys)
+/. - c.1306G>T r.(?) p.(Glu436Ter)
-/. - c.1367G>A r.(?) p.(Arg456Gln)
?/. - c.1468C>T r.(?) p.(Arg490Cys)
?/. - c.1469G>A r.(?) p.(Arg490His)
?/. - c.1774C>T r.(?) p.(Leu592Phe)
?/. - c.1774C>T r.(?) p.(Leu592Phe)
?/. - c.1829T>G r.(?) p.(Phe610Cys)
+?/. - c.1847_1852del r.(?) p.(Ile616_Leu617del)
?/. - c.2289G>A r.(?) p.(Met763Ile)
-?/. - c.2439T>C r.(?) p.(Phe813=)
-/. - c.2454G>A r.(?) p.(Glu818=)
+/. - c.2549T>A r.(?) p.(Leu850Ter)
?/. - c.2581A>G r.(?) p.(Ile861Val)
+/. - c.2593C>T r.(?) p.(Gln865Ter)
?/. - c.2612T>C r.(?) p.(Leu871Pro)
-?/. - c.2686G>T r.(?) p.(Val896Leu)
+?/. - c.2818+1G>C r.spl? p.?
-/. - c.2818+13T>C r.(=) p.(=)
-/. - c.2818+13T>C r.(=) p.(=)
-/. - c.2818+13T>G r.(=) p.(=)
+/. 19i c.2819-14A>G r.spl p.(=)
+?/. - c.2819-14A>G r.(=) p.(=)
-?/. - c.2860G>A r.(?) p.(Glu954Lys)
-?/. - c.2860G>A r.(?) p.(Glu954Lys)
-?/. - c.2860G>A r.(?) p.(Glu954Lys)
-/. - c.2860G>A r.(?) p.(Glu954Lys)
?/. - c.2935C>T r.(?) p.(Arg979Trp)
-?/. - c.2936G>A r.(?) p.(Arg979Gln)
-/. - c.2947-10dup r.(=) p.(=)
-?/. - c.2947-7C>T r.(=) p.(=)
-?/. - c.2947-6C>T r.(=) p.(=)
?/. - c.2972A>C r.(?) p.(Glu991Ala)
?/. - c.2993G>A r.(?) p.(Arg998Gln)
?/. - c.3015A>G r.(?) p.(Leu1005=)
+/. - c.3059T>G r.(?) p.(Leu1020Ter)
-?/. - c.3097-4A>G r.spl? p.?
?/. - c.3170G>A r.(?) p.(Arg1057His)
?/. - c.3170G>A r.(?) p.(Arg1057His)
-?/. - c.3181C>G r.(?) p.(Leu1061Val)
-?/. - c.3419G>T r.(?) p.(Gly1140Val)
?/. - c.3457C>T r.(?) p.(Arg1153Trp)
+/. - c.3459-1G>A r.spl? p.?
-?/. - c.3500A>G r.(?) p.(His1167Arg)
+/. - c.3509T>G r.(?) p.(Leu1170Ter)
-/. - c.3574-8del r.(=) p.(=)
-/. - c.3574-8del r.(=) p.(=)
-/. - c.3574-8del r.(=) p.(=)
-?/. - c.3574-7G>T r.(=) p.(=)
-/. - c.3660T>C r.(?) p.(Pro1220=)
-?/. - c.3660T>C r.(?) p.(Pro1220=)
?/. - c.3665G>A r.(?) p.(Gly1222Glu)
?/. - c.3665G>A r.(?) p.(Gly1222Glu)
?/. - c.3682C>A r.(?) p.(Leu1228Ile)
?/. - c.3682C>A r.(?) p.(Leu1228Ile)
?/. - c.3682C>A r.(?) p.(Leu1228Ile)
?/. - c.3746A>T r.(?) p.(Asp1249Val)
?/. - c.3746A>T r.(?) p.(Asp1249Val)
?/. - c.3782G>C r.(?) p.(Arg1261Thr)
-/. - c.3862A>G r.(?) p.(Thr1288Ala)
-/. - c.3862A>G r.(?) p.(Thr1288Ala)
-/. - c.3862A>G r.(?) p.(Thr1288Ala)
?/. - c.3920G>A r.(?) p.(Cys1307Tyr)
-/. - c.4068C>T r.(?) p.(Phe1356=)
-/. - c.4238A>G r.(?) p.(Lys1413Arg)
-/. - c.4238A>G r.(?) p.(Lys1413Arg)
-/. - c.4238A>G r.(?) p.(Lys1413Arg)
+?/. - c.4268G>A r.(?) p.(Arg1423His)
-?/. - c.4312T>C r.(?) p.(Leu1438=)
+?/. 31 c.4699C>G r.(?) p.(Leu1567Val)
-?/. - c.4719A>G r.(?) p.(Gln1573=)
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