Transcript #00004354 (NM_052813.4, CARD9 gene)

Transcript name transcript variant 1
Gene name CARD9 (caspase recruitment domain family, member 9)
Chromosome 9
Transcript - NCBI ID NM_052813.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_434700.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

48 entries on 1 page. Showing entries 1 - 48.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-4372C>T r.(?) p.(=)
-?/. - c.9C>A r.(?) p.(Asp3Glu)
-?/. - c.12C>T r.(?) p.(Tyr4=)
-?/. - c.12C>T r.(?) p.(Tyr4=)
-?/. - c.24C>T r.(?) p.(Asp8=)
-/. - c.35G>A r.(?) p.(Ser12Asn)
-/. - c.126C>T r.(?) p.(Pro42=)
-?/. - c.135G>A r.(?) p.(Glu45=)
-/. - c.228C>T r.(?) p.(Tyr76=)
-?/. - c.268C>T r.(?) p.(Leu90=)
-?/. - c.288C>A r.(?) p.(Gly96=)
-?/. - c.288C>A r.(?) p.(Gly96=)
-?/. - c.297G>A r.(?) p.(Pro99=)
?/. - c.324C>T r.(=) p.(=)
-?/. - c.330C>T r.(?) p.(Ser110=)
-?/. - c.406C>T r.(?) p.(Leu136=)
?/. - c.490C>T r.(?) p.(Leu164Phe)
-?/. - c.511G>A r.(?) p.(Gly171Ser)
-/. - c.513C>T r.(?) p.(Gly171=)
?/. - c.513C>T r.(?) p.(Gly171=)
-?/. - c.515G>A r.(?) p.(Ser172Asn)
-?/. - c.550G>A r.(?) p.(Asp184Asn)
?/. - c.586A>G r.(?) p.(Lys196Glu)
?/. - c.637C>T r.(?) p.(Leu213Phe)
?/. - c.638T>G r.(?) p.(Leu213Arg)
?/. - c.639C>G r.(?) p.(Leu213=)
?/. - c.683G>A r.(?) p.(Arg228His)
-/. - c.693G>A r.(?) p.(Thr231=)
?/. - c.757_759del r.(?) p.(Glu253del)
+?/. - c.768dup r.(?) p.(Leu257Alafs*78)
-?/. - c.807+8C>T r.(=) p.(=)
-?/. - c.808-9C>A r.(=) p.(=)
-?/. - c.808-9C>A r.(=) p.(=)
-?/. - c.809A>T r.(?) p.(Glu270Val)
-?/. - c.809A>T r.(?) p.(Glu270Val)
?/. - c.809A>T r.(?) p.(Glu270Val)
?/. - c.874C>T r.(?) p.(Arg292Trp)
-?/. - c.894C>G r.(?) p.(Ala298=)
-?/. - c.952-12C>T r.(=) p.(=)
-/. - c.1153G>C r.(?) p.(Val385Leu)
-?/. - c.1244G>A r.(?) p.(Arg415Gln)
-?/. - c.1357+16C>T r.(=) p.(=)
?/. - c.1358G>A r.(?) p.(Gly453Asp)
-?/. - c.1434T>C r.(?) p.(His478=)
?/. - c.1434+1G>C r.spl? p.?
?/. - c.1434+1G>C r.spl? p.?
?/. - c.1434+1G>C r.spl? p.?
-?/. - c.1567G>C r.(?) p.(Glu523Gln)
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