Transcript #00006631 (NM_173660.4, DOK7 gene)

Transcript name transcript variant 1
Gene name DOK7 (docking protein 7)
Chromosome 4
Transcript - NCBI ID NM_173660.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_775931.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

555 entries on 6 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-30G>T r.(=) p.(=)
-/. - c.-30G>T r.(?) p.(=)
-/. - c.-6C>G r.(?) p.(=)
+/. 2 c.? r.[55_100del, 55_532del, 101_532del] p.fs*
+/. 4 c.? - p.Arg158Ala
+/. 4 c.? - p.Arg159Ala
+/. 4 c.? - p.Arg174Ala
+/. 6 c.? - p.Leu241Ala
+?/. 6 c.? - p.Leu245Ala
-?/. 6 c.? - p.Leu248Ala
+?/. 7 c.? - p.Tyr395Phe
+?/. 7 c.? - p.Tyr405Phe
+?/. 7 c.? - p.Tyr395Phe
+?/. 7 c.? - p.Tyr405Phe
-?/. 7 c.? - p.Pro421*
+/. 4 c.? r.(?) p.?
+/. 1 c.7G>A r.(?) p.(Glu3Lys)
+/. 1 c.7G>A r.(?) p.Glu3Lys
+/. 1 c.7G>A r.(?) p.(Glu3Lys)
?/. 1 c.32T>C r.(?) p.(Ala11Val)
-?/. 1 c.42G>C r.(?) p.(=)
+/. 1 c.48C>T r.0? p.0?
+/. 1 c.48C>T r.0? p.0?
+?/. 1i c.54+12_54+23del r.spl p.(=)
+?/. 1i c.54+12_54+23del r.spl p.(=)
+/. 1i c.54+25_55-38del r.[54_55ins54+1_55-1; 54+14_55-38del] p.Trp19Valfs*23
+/. 1i c.54+25_55-38del r.[54_55ins54+1_55-1; 54+14_55-38del] p.Trp19Valfs*22
+?/. 1i c.54+25_55-38del r.spl? p.?
+/. 1i c.54+25_55-38del r.spl? p.?
+/. 1i c.54+25_55-38del r.54_55ins54+1_55-1{54+14_55-38del} p.Trp19Valfs*23
+/. 1i c.54+25_55-38del r.spl? p.?
+/. 1i c.54+25_55-38del r.spl? p.?
+/. 1i c.54+25_55+38del r.spl? p.?
+/. 1i c.54+25_55+38del r.spl? p.?
+/. 1i c.54+25_55+38del r.spl? p.?
+/. 1i c.54+25_55+38del r.spl? p.?
-/. - c.54+32_54+33del r.(=) p.(=)
+/. 1i c.55-2A>C r.55_65del p.Trp19Valfs*70
+/. 2 c.91C>A r.(?) p.(Pro31Thr)
+/. 2 c.91C>A r.(?) p.Pro31Thr
+/. 2 c.98C>T r.(?) p.(Ala33Val)
+/. 2 c.98C>T r.(?) p.Ala33Val
+/. 1 c.98C>T r.(?) p.(Ala33Val)
+/. 2i_3 c.101-124_141del r.spl? p.?
+/. 2i_3 c.101-124_141del r.spl? p.?
-/. - c.101-26G>A r.(=) p.(=)
+/. 2i_3 c.101-24_141del r.spl? p.?
?/. 2i c.101-19A>G r.spl p.(=)
-/. - c.101-11G>A r.(=) p.(=)
+/. 2i c.101-1G>C r.spl p.?
+/. 2i c.101-1G>T r.spl p.?
+/. 3 c.101_331del r.(?) p.Asp34_Glu110del
+/. 3 c.101_532del r.(?) p.Asp34_Trp178delinsGly
+/. 3 c.101_772del r.(?) p.Asp34_Gly257del
+/. 2i_6i c.(100+1_101-1)_(772+1_773-1)del r.101_772del p.fs*
-/. - c.134C>T r.(?) p.(Ser45Leu)
+/. 3 c.134C>T r.(?) p.(Ser45Leu)
+/. 3 c.134C>T r.(?) p.(Ser45Leu)
?/. - c.134C>T r.(?) p.(Ser45Leu)
-?/. 3 c.134C>T r.(?) p.(Ser45Leu)
+/. 3 c.134C>T r.(?) p.(Ser45Leu)
+/. 3 c.134C>T r.(?) p.(Ser45Leu)
-?/. 3 c.160C>T r.(?) p.(Arg54Cys)
+/. 3 c.176_206delinsAG r.(?) p.(Leu59GlnfsTer24)
+/. 3 c.176_206delinsAG r.(?) p.(Leu59GlnfsTer24)
+/. 3 c.176_206delinsAG r.?) p.(Leu59GlnfsTer24)
?/. - c.190G>A r.(?) p.(Gly64Arg)
+/. 3 c.190G>A r.(?) p.(Gly64Arg)
+/. 3 c.190G>M r.(?) p.(Gly64Arg)
+/. 3 c.190G>M r.(?) p.(Gly64Arg)
-/. - c.220= r.(=) p.(Leu74=)
-/. 3 c.220C>T r.(?) p.(=)
-?/. 3 c.220C>T r.(?) p.(=)
+/. 3 c.230C>T r.(?) p.(Thr77Met)
+/. 3 c.230C>T r.(?) p.Thr77Met
?/. 3 c.245G>T r.(?) p.(Cys82Phe)
-?/. 3 c.282C>T r.(?) p.(=)
-?/. 3 c.296C>T r.(?) p.(Ala99Val)
?/. - c.296C>T r.(?) p.(Ala99Val)
?/. - c.308G>A r.(?) p.(Arg103Gln)
?/. 3 c.313C>T r.(?) p.(Arg105Cys)
+/. 3 c.325G>T r.(?) p.(Gly109Cys)
+/. 3 c.325G>T r.(?) p.Gly109Cys
+/. 3 c.325G>T r.(?) p.(Gly109Cys)
+/. 3i c.331+1G>T r.[101_331del, 101_532del, 55_532del] p.[Asp34_Glu110del, fs*]
+/. 3i c.331+1G>T r.spl p.?
+/. 3i c.331+1G>T r.spl p.?
+/. 3i c.331+1G>T r.spl p.?
+/. 3i c.331+1G>T r.spl p.?
+/. 3i c.331+1G>T r.spl p.?
+/. 3i c.331+1G>T r.spl p.?
-/. - c.331+27G>A r.(=) p.(=)
-/. - c.332-112G>A r.(=) p.(=)
-/. - c.332-82G>A r.(=) p.(=)
-/. - c.332-69A>G r.(=) p.(=)
-/. - c.332-56delinsAT r.(=) p.(=)
-/. - c.332-50T>C r.(=) p.(=)
-/. - c.332-49C>T r.(=) p.(=)
-/. - c.332-39T>C r.(=) p.(=)
-/. - c.332-39T>C r.(=) p.(=)
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