Transcript #00025719 (NM_017946.4, FKBP14 gene)

Transcript name transcript variant 1
Gene name FKBP14 (FKBP prolyl isomerase 14)
Chromosome 7
Transcript - NCBI ID NM_017946.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_060416.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

46 entries on 1 page. Showing entries 1 - 46.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
+/. _1_4_ c.0 r.0 p.0 - -
?/. 1 c.? r.? p.? - -
+/. - c.2T>G r.(?) p.(Met1?) - -
+/+ 1 c.42_60del r.(?) p.(Thr15*) nonsense deletion
+/+ 01 c.143T>A r.(?) p.(Met48Lys) missense substitution
-/. - c.165C>T r.(?) p.(Tyr55=) - -
-/. - c.165C>T r.(?) p.(Tyr55=) - -
+/. - c.197+5_197+8del r.(197_198insguaauuaugccccgcag ) p.(His67*) - -
+/. 01 c.197+5_197+8del r.(197_198insguaauuaugccccgcag ) p.(His67*) splicing affected deletion
+/. 01 c.197+5_197+8del r.197_198insguaauuaugccccgcag p.His67* splicing affected deletion
+/. 01 c.197+5_197+8del r.197_198insguaauuaugccccgcag p.His67* splicing affected deletion
+?/. - c.197+5_197+8del r.spl p.? - -
+/+ 01i c.197+5_197+8del r.spl? p.? splicing affected? deletion
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - -
+/. 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/. 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/. 03 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - -
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - -
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - -
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - -
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - -
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - -
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - -
+/. - c.362dup r.(?) p.(Glu122Argfs*7) - -
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) - -
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) - -
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) - -
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/+ 03 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/. - c.362dup r.(?) p.(Glu122ArgfsTer7) - -
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
+/+ 3 c.362dup r.(?) p.(Glu122Argfs*7) frameshift duplication
-/- 4 c.496_498del r.(?) p.(Lys166del) deletion deletion
+/+ 4 c.523dup r.(?) p.(Val175Glyfs*3) frameshift duplication
+/+? 4 c.573_575del r.(?) p.(Glu191del) deletion deletion
+/. - c.587A>G r.(?) p.(Asp196Gly) - -
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