Transcript #00016194 (NM_032409.2, PINK1 gene)

Transcript name PTEN induced putative kinase 1
Gene name PINK1 (PTEN induced putative kinase 1)
Chromosome 1
Transcript - NCBI ID NM_032409.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_115785.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-419301_*1913226del r.? p.?
-?/. - c.-28_-20del r.(?) p.(=)
+/+ 5i_8_ c.1123+1247_*820{0} r.spl p.?
+/+ 1 c.70_101del r.(?) p.(Lys24Glyfs*31)
-/. - c.189C>T r.(?) p.(Leu63=)
-/. - c.189C>T r.(?) p.(Leu63=)
?/. 1 c.203_204delinsCT r.(?) p.(Arg68Pro)
-?/. - c.241T>C r.(?) p.(Leu81=)
?/. 1 c.275G>T r.(?) p.(Cys92Phe)
?/. 1 c.292C>T r.(?) p.(Arg98Trp)
+/. - c.326del r.(?) p.(Gly109AlafsTer49)
?/. 1 c.332T>G r.(?) p.(Ile111Ser)
-?/. - c.344A>T r.(?) p.(Gln115Leu)
-/. - c.344A>T r.(?) p.(Gln115Leu)
?/. 1 c.373T>G r.(?) p.(Cys125Gly)
-?/. - c.387+20A>G r.(=) p.(=)
-/. - c.388-65C>G r.(=) p.(=)
-/. - c.388-65_388-64del r.(=) p.(=)
-/. - c.388-7A>G r.(=) p.(=)
-/. - c.388-7A>G r.(=) p.(=)
-/. - c.388-7A>G r.(=) p.(=)
?/. - c.434C>T r.(?) p.(Thr145Met)
-?/. - c.434C>T r.(?) p.(Thr145Met)
?/. 2 c.440G>A r.(?) p.(Arg147His)
+/. - c.502G>C r.(?) p.(Ala168Pro)
?/. 2 c.502G>C r.(?) p.(Ala168Pro)
?/. 2 c.502G>C r.(?) p.(Ala168Pro)
?/. 2 c.558G>C r.(?) p.(Lys186Asn)
-?/. - c.565G>A r.(?) p.(Gly189Arg)
?/. 2 c.577G>A r.(?) p.G193R
?/. - c.587C>T r.(?) p.(Pro196Leu)
?/. - c.587C>T r.(?) p.(Pro196Leu)
?/. 2 c.587C>T r.(?) p.(Pro196Leu)
?/. 2 c.626C>T r.(?) p.(Pro209Leu)
?/. 2 c.650C>A r.(?) p.(Ala217Asp)
?/. 3 c.692A>G r.(?) p.(Glu231Gly)
?/. - c.701T>C r.(?) p.(Leu234Ser)
?/. - c.709A>G r.(?) p.(Met237Val)
?/. - c.709A>G r.(?) p.(Met237Val)
+/+ 3 c.715C>T r.(?) p.(Gln239*)
?/. 3 c.718G>A r.(?) p.(Glu240Lys)
?/. 3 c.718G>A r.(?) p.(Glu240Lys)
+/+ 3 c.736C>T r.(?) p.(Arg246*)
+/+ 3 c.736C>T r.(?) p.(Arg246*)
+/+ 3 c.774C>A r.(?) p.(Tyr258*)
-?/. - c.776+10C>T r.(=) p.(=)
?/. 4 c.802C>G r.(?) p.(Leu268Val)
?/. 4 c.813C>A r.(?) p.(His271Gln)
?/. 4 c.836G>A r.(?) p.(Arg279His)
?/. 4 c.838G>A r.(?) p.(Ala280Thr)
?/. 4 c.887C>T r.(?) p.(Pro296Leu)
+/+ 4 c.889del r.(?) p.(Asp297Metfs*22)
?/. 4 c.926G>A r.(?) p.(Gly309Asp)
-?/. - c.936G>A r.(?) p.(Arg312=)
?/. 4 c.938C>T r.(?) p.(Thr313Met)
+/. - c.938C>T r.(?) p.(Thr313Met)
?/. 4 c.949G>A r.(?) p.(Val317Ile)
?/. - c.952A>T r.(?) p.(Met318Leu)
?/. 4 c.952A>T r.(?) p.(Met318Leu)
-/. - c.960-424G>A r.(=) p.(=)
-/. - c.960-142G>C r.(=) p.(=)
-/. - c.960-56dup r.(=) p.(=)
-?/. - c.960-11C>T r.(=) p.(=)
-?/. - c.960-10T>C r.(=) p.(=)
-/. - c.960-5G>A r.spl? p.?
-/. - c.960-5G>A r.spl? p.?
-/. - c.960-5G>A r.spl? p.?
?/. 5 c.965C>T r.(?) p.(Pro322Leu)
?/. - c.1015G>A r.(?) p.(Ala339Thr)
?/. 5 c.1015G>A r.(?) p.(Ala339Thr)
?/. - c.1015G>A r.(?) p.(Ala339Thr)
-/. - c.1018G>A r.(?) p.(Ala340Thr)
?/. 5 c.1018G>A r.(?) p.(Ala340Thr)
-/. - c.1018G>A r.(?) p.(Ala340Thr)
-?/. - c.1021A>G r.(?) p.(Met341Val)
+/. - c.1040T>C r.(?) p.(Leu347Pro)
?/. 5 c.1040T>C r.(?) p.(Leu347Pro)
?/. 5 c.1040T>C r.(?) p.(Leu347Pro)
?/. 5 c.1106T>C r.(?) p.(Leu369Pro)
-/. - c.1123+91_1123+104del r.(=) p.(=)
-/. - c.1123+124G>A r.(=) p.(=)
-/. - c.1123+161del r.(=) p.(=)
-/. - c.1124-196A>G r.(=) p.(=)
-?/. - c.1125C>T r.(?) p.(Asp375=)
-?/. - c.1147G>A r.(?) p.(Ala383Thr)
?/. 6 c.1147G>A r.(?) p.(Ala383Thr)
?/. 6 c.1157G>C r.(?) p.(Gly386Ala)
+?/. - c.1162T>C r.(?) p.(Cys388Arg)
?/. 6 c.1162T>C r.(?) p.(Cys388Arg)
?/. 6 c.1184G>T r.(?) p.(Gly395Val)
?/. 6 c.1196C>T r.(?) p.(Pro399Leu)
?/. 6 c.1196C>T r.(?) p.(Pro399Leu)
?/. - c.1196C>T r.(?) p.(Pro399Leu)
?/. 6 c.1220G>A r.(?) p.(Arg407Gln)
?/. 6 c.1226G>T r.(?) p.(Gly409Val)
-?/. - c.1231G>A r.(?) p.(Gly411Ser)
?/. 6 c.1231G>A r.(?) p.(Gly411Ser)
?/. 6 c.1231G>A r.(?) p.(Gly411Ser)
?/. 6 c.1231G>A r.(?) p.(Gly411Ser)
?/. 6 c.1231G>A r.(?) p.(Gly411Ser)
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