Transcript #00022387 (NM_199242.2, UNC13D gene)

Transcript name unc-13 homolog D (C. elegans)
Gene name UNC13D (unc-13 homolog D (C. elegans))
Chromosome 17
Transcript - NCBI ID NM_199242.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_954712.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-3540G>A r.(?) p.(=)
-?/. - c.24G>A r.(?) p.(Pro8=)
?/. - c.31C>T r.(?) p.(Arg11Cys)
?/. - c.67C>T r.(?) p.(Arg23Cys)
-?/. - c.99G>A r.(?) p.(Pro33=)
-/. - c.117+59C>T r.(=) p.(=)
+?/. - c.118-308C>T r.(=) p.(=)
-/. - c.154-19G>A r.(=) p.(=)
-/. - c.154-19G>A r.(=) p.(=)
-/. - c.154-19G>A r.(=) p.(=)
-/. - c.154-8T>A r.(=) p.(=)
-/. - c.175G>A r.(?) p.(Ala59Thr)
+?/. - c.247C>T r.(?) p.(Arg83*)
+?/. - c.262-1G>A r.spl? p.?
?/. - c.262-1G>A r.spl? p.?
-?/. - c.271G>A r.(?) p.(Val91Met)
-/. - c.279C>T r.(?) p.(Pro93=)
-/. - c.279C>T r.(?) p.(Pro93=)
?/. - c.283_285dup r.(?) p.(Glu95dup)
?/. - c.407G>T r.(?) p.(Cys136Phe)
?/. - c.421G>T r.(?) p.(Glu141Ter)
?/. - c.551G>A r.(?) p.(Trp184Ter)
?/. - c.560C>A r.(?) p.(Thr187Asn)
?/. - c.602A>G r.(?) p.(His201Arg)
-?/. - c.610A>G r.(?) p.(Met204Val)
-?/. - c.629T>G r.(?) p.(Val210Gly)
+?/. - c.640C>T r.(?) p.(Arg214Ter)
+/. - c.753+1G>T r.spl? p.?
?/. - c.754-2A>G r.spl? p.?
-?/. - c.869C>T r.(?) p.(Ser290Leu)
-/. - c.888G>C r.(?) p.(Pro296=)
-/. - c.888G>C r.(?) p.(Pro296=)
-/. - c.888G>C r.(?) p.(Pro296=)
-?/. - c.897C>A r.(?) p.(Thr299=)
?/. - c.929C>T r.(?) p.(Ser310Phe)
?/. - c.949G>A r.(?) p.(Glu317Lys)
-/. - c.951+13T>G r.(=) p.(=)
?/. - c.951+13T>G r.(=) p.(=)
?/. - c.951+13T>G r.(=) p.(=)
?/. - c.952-1G>A r.spl? p.?
-?/. - c.1014C>T r.(?) p.(His338=)
?/. - c.1055+1G>A r.spl? p.?
-?/. - c.1134C>T r.(?) p.(Ile378=)
-?/. - c.1204C>T r.(?) p.(Leu402=)
?/. - c.1232G>A r.(?) p.(Arg411Gln)
?/. - c.1232G>A r.(?) p.(Arg411Gln)
?/. - c.1241G>T r.(?) p.(Arg414Leu)
-/. - c.1390-38T>C r.(=) p.(=)
-?/. - c.1447-17C>T r.(=) p.(=)
?/. - c.1447-1G>A r.spl? p.?
-?/. - c.1579C>T r.(?) p.(Arg527Trp)
?/. - c.1607G>T r.(?) p.(Arg536Leu)
?/. - c.1607G>T r.(?) p.(Arg536Leu)
?/. - c.1759C>T r.(?) p.(Arg587Cys)
?/. - c.1772C>T r.(?) p.(Pro591Leu)
?/. - c.1772C>T r.(?) p.(Pro591Leu)
+/. - c.1807G>T r.(?) p.(Glu603*)
?/. - c.1828C>T r.(?) p.(Arg610Cys)
-/. - c.1992+5G>A r.spl? p.?
-/. - c.1992+11T>C r.(=) p.(=)
-?/. - c.2046C>A r.(?) p.(Arg682=)
-?/. - c.2052C>G r.(?) p.(Leu684=)
-?/. - c.2160A>G r.(?) p.(Ala720=)
?/. - c.2180G>A r.(?) p.(Arg727Gln)
?/. - c.2195T>C r.(?) p.(Leu732Pro)
?/. - c.2219C>T r.(?) p.(Thr740Met)
?/. - c.2242G>T r.(?) p.(Ala748Ser)
-/. - c.2298+15C>T r.(=) p.(=)
-?/. - c.2335G>A r.(?) p.(Val779Met)
-?/. - c.2335G>A r.(?) p.(Val779Met)
-?/. - c.2341G>A r.(?) p.(Val781Ile)
-?/. - c.2341G>A r.(?) p.(Val781Ile)
-?/. - c.2367+62T>C r.(=) p.(=)
-?/. - c.2380C>T r.(?) p.(Leu794=)
-/. - c.2448-13_2448-12insC r.(=) p.(=)
-/. - c.2448-8dup r.(=) p.(=)
+/. - c.2477_2480del r.(?) p.(Leu826GlnfsTer20)
+/. - c.2477_2480del r.(?) p.(Leu826GlnfsTer20)
-?/. - c.2542A>C r.(?) p.(Ile848Leu)
-?/. - c.2542A>C r.(?) p.(Ile848Leu)
-?/. - c.2542A>C r.(?) p.(Ile848Leu)
-?/. - c.2553+5C>G r.spl? p.?
-?/. - c.2553+5C>G r.spl? p.?
-?/. - c.2553+12G>A r.(=) p.(=)
-?/. - c.2554-16C>T r.(=) p.(=)
?/. - c.2588G>A r.(?) p.(Gly863Asp)
?/. - c.2588G>A r.(?) p.(Gly863Asp)
?/. - c.2588G>A r.(?) p.(Gly863Asp)
?/. - c.2588G>A r.(?) p.(Gly863Asp)
?/. - c.2588G>A r.(?) p.(Gly863Asp)
?/. - c.2588G>A r.(?) p.(Gly863Asp)
-/. - c.2599A>G r.(?) p.(Lys867Glu)
-/. - c.2599A>G r.(?) p.(Lys867Glu)
-/. - c.2599A>G r.(?) p.(Lys867Glu)
?/. - c.2672T>C r.(?) p.(Leu891Pro)
+/. - c.2695C>T r.(?) p.(Arg899Ter)
+/. - c.2695C>T r.(?) p.(Arg899Ter)
+/. - c.2695C>T r.(?) p.(Arg899Ter)
+?/. - c.2764G>A r.(?) p.(Ala922Thr)
?/. - c.2768C>G r.(?) p.(Ser923Cys)
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