Transcript #00025575 (NM_203447.3, DOCK8 gene)

Transcript name transcript variant 1
Gene name DOCK8 (dedicator of cytokinesis 8)
Chromosome 9
Transcript - NCBI ID NM_203447.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_982272.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

206 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-298G>A r.(?) p.(=)
+/. - c.-10873_*7734780del r.0? p.0?
+/. _1_48_ c.-112_*1040{0} r.0 p.0
?/. - c.52A>G r.(?) p.(Arg18Gly)
?/. - c.53+163C>G r.(=) p.(=)
?/. - c.53+170_53+192del r.(=) p.(=)
-?/. - c.53+358A>G r.(=) p.(=)
+/. - c.54-1G>T r.spl? p.?
+?/. - c.54-1G>T r.spl? p.?
-/. - c.65C>T r.(?) p.(Ala22Val)
-/. - c.65C>T r.(?) p.(Ala22Val)
?/. - c.157-1G>C r.spl? p.?
-/. - c.289C>A r.(?) p.(Pro97Thr)
-/. - c.289C>A r.(?) p.(Pro97Thr)
?/. - c.295G>A r.(?) p.(Glu99Lys)
-?/. - c.378C>G r.(?) p.(Ile126Met)
?/. - c.379C>T r.(?) p.(Arg127Cys)
?/. - c.380G>A r.(?) p.(Arg127His)
-?/. - c.380G>A r.(?) p.(Arg127His)
-/. - c.404+16del r.(=) p.(=)
+?/. - c.452G>A r.(?) p.(Arg151Gln)
?/. - c.452G>A r.(?) p.(Arg151Gln)
-?/. - c.470C>T r.(?) p.(Thr157Met)
?/. - c.476C>T r.(?) p.(Pro159Leu)
?/. - c.485C>T r.(?) p.(Thr162Met)
-?/. - c.494C>T r.(?) p.(Ser165Leu)
-?/. - c.494C>T r.(?) p.(Ser165Leu)
-/. - c.529-140C>G r.(=) p.(=)
-?/. - c.578C>G r.(?) p.(Pro193Arg)
-?/. - c.580G>A r.(?) p.(Val194Ile)
-?/. - c.580G>A r.(?) p.(Val194Ile)
-?/. - c.623A>G r.(?) p.(Lys208Arg)
-?/. - c.663C>A r.(?) p.(Asp221Glu)
?/. - c.663C>A r.(?) p.(Asp221Glu)
-/. - c.679G>A r.(?) p.(Glu227Lys)
?/. - c.679G>A r.(?) p.(Glu227Lys)
-?/. - c.685G>C r.(?) p.(Ala229Pro)
?/. - c.688C>T r.(?) p.(Arg230Trp)
-/. - c.699T>C r.(?) p.(Asn233=)
-/. - c.709G>A r.(?) p.(Glu237Lys)
-?/. - c.709G>A r.(?) p.(Glu237Lys)
-?/. - c.709G>A r.(?) p.(Glu237Lys)
-/. - c.709G>A r.(?) p.(Glu237Lys)
+/. 7i_23i c.(827+1_828-1)_(2874+1_2875-1)del r.? p.?
?/. - c.874G>A r.(?) p.(Asp292Asn)
-/. - c.894+74_894+75insC r.(=) p.(=)
-/. - c.895-16T>C r.(=) p.(=)
-/. - c.895-16T>C r.(=) p.(=)
-?/. - c.914G>T r.(?) p.(Cys305Phe)
?/. - c.986C>T r.(?) p.(Ala329Val)
?/. - c.986C>T r.(?) p.(Ala329Val)
?/. - c.1016C>T r.(?) p.(Pro339Leu)
+?/. - c.1016C>T r.(?) p.(Pro339Leu)
?/. - c.1036G>A r.(?) p.(Val346Ile)
?/. - c.1072A>G r.(?) p.(Ile358Val)
?/. - c.1090C>T r.(?) p.(Pro364Ser)
-?/. - c.1098G>A r.(?) p.(Thr366=)
?/. - c.1178G>A r.(?) p.(Arg393His)
-/. - c.1238A>G r.(?) p.(Asn413Ser)
+/. - c.1285+1G>A r.spl? p.?
-/. - c.1422+101G>T r.(=) p.(=)
-?/. - c.1526G>C r.(?) p.(Arg509Thr)
-/. - c.1587C>G r.(?) p.(Pro529=)
?/. - c.1623C>G r.(?) p.(His541Gln)
-/. - c.1679+18G>A r.(=) p.(=)
-/. - c.1680-2431del r.(=) p.(=)
-?/. - c.1683C>A r.(?) p.(Asn561Lys)
-?/. - c.1790C>T r.(?) p.(Ala597Val)
-?/. - c.1790C>T r.(?) p.(Ala597Val)
-/. - c.1790C>T r.(?) p.(Ala597Val)
?/. - c.1798-4A>G r.spl? p.?
-/. - c.1812A>G r.(?) p.(Lys604=)
-/. - c.1812A>G r.(?) p.(Lys604=)
?/. - c.1813T>C r.(?) p.(Ser605Pro)
?/. - c.1829T>G r.(?) p.(Phe610Cys)
+/. - c.1860C>A r.(?) p.(Tyr620Ter)
?/. - c.1883A>T r.(?) p.(Tyr628Phe)
?/. - c.2074A>G r.(?) p.(Lys692Glu)
-?/. - c.2109+11del r.(=) p.(=)
-?/. - c.2110-7A>T r.(=) p.(=)
?/. - c.2111A>G r.(?) p.(Lys704Arg)
-?/. - c.2269A>G r.(?) p.(Ile757Val)
?/. - c.2272C>T r.(?) p.(Arg758Cys)
-/. - c.2295C>T r.(?) p.(Ser765=)
?/. - c.2296G>A r.(?) p.(Glu766Lys)
-?/. - c.2304G>A r.(?) p.(Ala768=)
-/. - c.2340G>C r.(?) p.(Leu780=)
-/. - c.2340G>C r.(?) p.(Leu780=)
-?/. - c.2364C>T r.(?) p.(Leu788=)
?/. - c.2372T>C r.(?) p.(Phe791Ser)
?/. - c.2436G>C r.(?) p.(Gln812His)
?/. - c.2444A>C r.(?) p.(Asn815Thr)
?/. - c.2494C>T r.(?) p.(His832Tyr)
-?/. - c.2594T>C r.(?) p.(Val865Ala)
?/. - c.2830G>T r.(?) p.(Asp944Tyr)
+?/. - c.2874+1G>T r.spl? p.?
+/. - c.2899C>T r.(?) p.(Gln967Ter)
-/. - c.2916C>T r.(?) p.(Thr972=)
-/. - c.2916C>T r.(?) p.(Thr972=)
-/. - c.3022C>T r.(?) p.(Arg1008Trp)
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »