Transcript #00018954 (NM_005413.3, SIX3 gene)

Transcript name SIX homeobox 3
Gene name SIX3 (SIX homeobox 3)
Chromosome 2
Transcript - NCBI ID NM_005413.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_005404.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

43 entries on 1 page. Showing entries 1 - 43.
Legend   How to query  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type/DNA     
-?/. - c.42C>T r.(?) p.(Phe14=) -
-?/. - c.58G>T r.(?) p.(Ala20Ser) -
-?/. - c.80T>C r.(?) p.(Ile27Thr) -
-?/. - c.109G>T r.(?) p.(Gly37Cys) -
-?/. - c.109G>T r.(?) p.(Gly37Cys) -
-?/. - c.126_173del r.(?) p.(Gly43_Gly58del) -
?/. - c.151G>C r.(?) p.(Gly51Arg) -
?/. - c.157G>T r.(?) p.(Gly53Cys) -
-/. - c.205_207del r.(?) p.(Gly69del) -
-?/. - c.206G>A r.(?) p.(Gly69Asp) -
?/. - c.206G>A r.(?) p.(Gly69Asp) -
?/. - c.221C>G r.(?) p.(Pro74Arg) -
+/. - c.235A>G r.(?) p.(Met79Val) -
-?/. - c.246G>T r.(?) p.(Leu82=) -
-?/. - c.263C>T r.(?) p.(Ser88Leu) -
+?/. - c.334C>T r.(?) p.(Leu112Phe) -
+/. - c.338G>A r.(?) p.(Trp113Ter) -
-?/. - c.348C>T r.(?) p.(Pro116=) -
-?/. - c.369G>A r.(?) p.(Glu123=) -
+/. - c.404_407dup r.(?) p.(Val137ArgfsTer18) -
+/. - c.463_465del r.(?) p.(His155del) -
-/. - c.525G>A r.(?) p.(Gln175=) -
-/. - c.576C>T r.(?) p.(Arg192=) -
-/. - c.576C>T r.(?) p.(Arg192=) -
?/. - c.608T>C r.(?) p.(Ile203Thr) -
+?/. - c.659T>C r.(?) p.(Leu220Pro) -
-?/. - c.720G>T r.(?) p.(Ala240=) -
+/. - c.736del r.(?) p.(Thr246LeufsTer5) -
+?/. - c.747A>C r.(?) p.(Gln249His) -
+?/. - c.754_756del r.(?) p.(Asn252del) -
+/. - c.769C>G r.(?) p.(Arg257Gly) -
+/. - c.806G>C r.(?) p.(Arg269Thr) -
+/. - c.806G>T r.(?) p.(Arg269Met) -
+/. - c.806+1G>T r.spl? p.? -
-/. - c.806+145A>G r.(=) p.(=) -
-?/. - c.807-7C>T r.(=) p.(=) -
-?/. - c.824T>C r.(?) p.(Ile275Thr) -
-?/. - c.831G>A r.(?) p.(Pro277=) -
?/. - c.887C>G r.(?) p.(Ser296Trp) -
-/. - c.942A>G r.(?) p.(Ala314=) -
-/. - c.942A>G r.(?) p.(Ala314=) -
?/. - c.947C>T r.(?) p.(Thr316Ile) -
-?/. - c.947C>T r.(?) p.(Thr316Ile) -
Legend   How to query