Transcript #00015670 (NM_007262.4, PARK7 gene)

Transcript name transcript variant 1
Gene name PARK7 (parkinson protein 7)
Chromosome 1
Transcript - NCBI ID NM_007262.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_009193.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

56 entries on 1 page. Showing entries 1 - 56.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/- _1 c.-99C>T r.(?) p.(=)
-/. - c.-99T>C r.(?) p.(=)
?/. 1i c.-24+77_-23-44del r.spl? p.?
?/. 1i c.-24+77_-23-44dup r.spl? p.?
-/- 1i c.-24+121G>T r.(?) p.(=)
+?/+? 4i_7_ c.(252+1_253-1)_*228{0} r.? p.?
+/+ _1_5i c.-163_(322+1_333-1){0} r.0? p.0?
?/. - c.56C>T r.(?) p.(Thr19Met)
?/. 2 c.56_57delinsA r.(?) p.(Thr19Lysfs*5)
+?/+? 2 c.78G>A r.(?) p.(Met26Ile)
+?/+? 3 c.115G>T r.(?) p.(Ala39Ser)
+/. - c.133C>T r.(?) p.(Gln45Ter)
+?/+? 3 c.192G>C r.(?) p.(Glu64Asp)
?/. - c.211G>T r.(?) p.(Val71Phe)
-/. - c.234C>T r.(?) p.(Gly78=)
-/. - c.234C>T r.(?) p.(Gly78=)
-/. - c.234C>T r.(?) p.(Gly78=)
?/. 4 c.234C>T r.(?) p.(Gly78=)
?/. 4 c.234C>T r.(?) p.(Gly78=)
-?/. - c.252+8dup r.(=) p.(=)
-/. - c.252+30T>G r.(=) p.(=)
-/- 4i c.252+30T>G r.(?) p.?
-/- 4i c.253-31C>T r.(?) p.?
-/. - c.293G>A r.(?) p.(Arg98Gln)
-?/. - c.293G>A r.(?) p.(Arg98Gln)
-?/. - c.293G>A r.(?) p.(Arg98Gln)
-/- 5 c.293G>A r.(?) p.(Arg98Gln)
?/. 5 c.293G>A r.(?) p.(Arg98Gln)
-/- 5 c.293G>A r.(?) p.(Arg98Gln)
?/. 5 c.294G>T r.(?) p.(Arg98=)
?/. 5 c.310G>A r.(?) p.(Ala104Thr)
?/. 5 c.310G>A r.(?) p.(Ala104Thr)
+/+ 5i c.322+2_322+12del r.spl p.?
-?/. - c.322+5C>T r.spl? p.?
-/- 5i c.322+31G>A r.(?) p.?
+?/+? 6i c.410-1G>C r.spl p.?
?/. 7 c.446A>C r.(?) p.(Asp149Ala)
?/. - c.466C>T r.(?) p.(Arg156Trp)
+/. - c.471_473del r.(?) p.(Pro158del)
+/. - c.471_473del r.(?) p.(Pro158del)
?/. - c.471_473del r.(?) p.(Pro158del)
-?/. - c.474T>C r.(?) p.(Pro158=)
-?/. - c.486C>T r.(?) p.(Phe162=)
?/. - c.487G>A r.(?) p.(Glu163Lys)
+/+ 7 c.487G>A r.(?) p.(Glu163Lys)
+/. - c.497T>C r.(?) p.(Leu166Pro)
+/+ 7 c.497T>C r.(?) p.(Leu166Pro)
-?/. - c.501A>G r.(?) p.(Ala167=)
?/. 7 c.501A>G r.(?) p.(Ala167=)
?/. 7 c.501A>G r.(?) p.(Ala167=)
?/. - c.502A>G r.(?) p.(Ile168Val)
?/. 7 c.511G>T r.(?) p.A(la171Ser)
-?/. - c.535G>A r.(?) p.(Ala179Thr)
-?/. - c.559C>T r.(?) p.(Leu187Phe)
?/. 7 c.*119_*120insA r.(?) p.(=)
?/. 7 c.*203G>A r.(?) p.?
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