Transcript #00024162 (NM_013227.3, ACAN gene)

Transcript name transcript variant 2
Gene name ACAN (aggrecan)
Chromosome 15
Transcript - NCBI ID NM_013227.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_037359.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

456 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.5C>T r.(?) p.(Thr2Ile)
+/. 2 c.6_13del r.(?) p.(Thr3Leufs*21)
?/. - c.25G>A r.(?) p.(Val9Met)
-?/. - c.70+13C>T r.(=) p.(=)
-?/. - c.72C>A r.(?) p.(Asp24Glu)
?/. - c.75T>A r.(?) p.(His25Gln)
-?/. - c.75T>A r.(?) p.(His25Gln)
-?/. - c.84G>A r.(?) p.(Ser28=)
?/. - c.113C>T r.(?) p.(Pro38Leu)
?/. - c.130G>A r.(?) p.(Gly44Arg)
?/. - c.163G>A r.(?) p.(Asp55Asn)
-?/. - c.164A>G r.(?) p.(Asp55Gly)
-?/. - c.168C>T r.(?) p.(Pro56=)
?/. - c.185C>A r.(?) p.(Thr62Asn)
-?/. - c.186C>T r.(?) p.(Thr62=)
?/. - c.199G>A r.(?) p.(Ala67Thr)
-?/. - c.199G>A r.(?) p.(Ala67Thr)
-?/. - c.199G>A r.(?) p.(Ala67Thr)
-/. - c.204A>C r.(?) p.(Pro68=)
-?/. - c.204A>C r.(?) p.(Pro68=)
?/. - c.205C>A r.(?) p.(Leu69Met)
?/. - c.229C>T r.(?) p.(Arg77Cys)
?/. - c.229C>T r.(?) p.(Arg77Cys)
-?/. - c.230G>A r.(?) p.(Arg77His)
-/. - c.230G>A r.(?) p.(Arg77His)
?/. - c.280G>A r.(?) p.(Val94Met)
-?/. - c.306C>A r.(?) p.(Asp102Glu)
-/. - c.306C>A r.(?) p.(Asp102Glu)
?/. - c.330G>A r.(?) p.(Pro110=)
?/. - c.371G>A r.(?) p.(Arg124His)
?/. - c.394C>T r.(?) p.(Arg132Cys)
?/. - c.400G>A r.(?) p.(Glu134Lys)
?/. - c.400G>A r.(?) p.(Glu134Lys)
-?/. - c.417C>T r.(?) p.(Ile139=)
-/. - c.438G>A r.(?) p.(Leu146=)
-?/. - c.444C>A r.(?) p.(Val148=)
-?/. - c.444C>T r.(?) p.(Val148=)
+?/. - c.454+1G>A r.spl? p.?
-?/. - c.454+12C>G r.(=) p.(=)
?/. - c.455-17G>A r.(=) p.(=)
-?/. - c.456C>T r.(?) p.(Gly152=)
?/. - c.488G>A r.(?) p.(Arg163His)
-?/. - c.492C>T r.(?) p.(Tyr164=)
-?/. - c.519G>T r.(?) p.(Arg173=)
?/. - c.539C>T r.(?) p.(Ala180Val)
?/. - c.542T>A r.(?) p.(Ile181Asn)
+?/. - c.547G>A r.(?) p.(Ala183Thr)
-?/. - c.552G>A r.(?) p.(Thr184=)
-?/. - c.582C>T r.(?) p.(Asp194=)
-/. - c.582C>T r.(?) p.(Asp194=)
?/. - c.630-1G>A r.spl? p.?
?/. - c.634C>G r.(?) p.(Pro212Ala)
?/. - c.650G>A r.(?) p.(Arg217Gln)
?/. - c.650G>A r.(?) p.(Arg217Gln)
+/. 5 c.661del r.(?) p.(Tyr221Metfs*10)
+?/. - c.695C>T r.(?) p.(Thr232Met)
-?/. - c.703A>T r.(?) p.(Ile235Phe)
+/. - c.706C>T r.(?) p.(Arg236Ter)
?/. - c.707G>A r.(?) p.(Arg236Gln)
+?/. - c.742G>A r.(?) p.(Ala248Thr)
-?/. - c.744C>T r.(?) p.(Ala248=)
-?/. - c.757+17A>G r.(=) p.(=)
-?/. - c.820C>T r.(?) p.(Arg274Trp)
-/. - c.824G>A r.(?) p.(Arg275Gln)
-?/. - c.825G>A r.(?) p.(Arg275=)
-?/. - c.836G>A r.(?) p.(Arg279Gln)
?/. - c.860A>G r.(?) p.(Tyr287Cys)
?/. - c.866C>A r.(?) p.(Ala289Asp)
-?/. - c.867C>T r.(?) p.(Ala289=)
?/. - c.893G>A r.(?) p.(Ser298Asn)
-?/. - c.895G>A r.(?) p.(Ala299Thr)
?/. - c.898G>A r.(?) p.(Gly300Ser)
?/. - c.905T>C r.(?) p.(Leu302Pro)
+?/. - c.912C>A r.(?) p.(Asp304Glu)
?/. - c.913C>T r.(?) p.(Arg305Cys)
?/. - c.919G>A r.(?) p.(Val307Met)
-?/. - c.924C>G r.(?) p.(Arg308=)
?/. - c.943C>T r.(?) p.(Arg315Trp)
?/. - c.982G>A r.(?) p.(Val328Ile)
+/. - c.986dup r.(?) p.(Tyr329*)
-?/. - c.1005G>A r.(?) p.(Thr335=)
?/. - c.1013C>T r.(?) p.(Pro338Leu)
?/. - c.1024T>C r.(?) p.(Ser342Pro)
?/. - c.1051+2T>C r.spl? p.?
-/. - c.1051+9C>T r.(=) p.(=)
-/. - c.1051+9C>T r.(=) p.(=)
-/. - c.1051+10G>A r.(=) p.(=)
?/. - c.1051+19T>G r.(=) p.(=)
+/. - c.1090dup r.(?) p.(Val364Glyfs*4)
-?/. - c.1113C>G r.(?) p.(Thr371=)
-?/. - c.1114G>A r.(?) p.(Val372Ile)
+/. 7 c.1120_1123del r.(?) p.(Thr374*)
?/. - c.1129T>C r.(?) p.(Trp377Arg)
+?/. - c.1180C>T r.(?) p.(Arg394*)
-?/. - c.1183G>A r.(?) p.(Gly395Ser)
?/. - c.1185C>T r.(?) p.(Gly395=)
-?/. - c.1187G>C r.(?) p.(Ser396Thr)
-?/. - c.1188C>T r.(?) p.(Ser396=)
-?/. - c.1210A>G r.(?) p.(Ile404Val)
-/. - c.1210A>G r.(?) p.(Ile404Val)
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