Transcript #00001486 (NM_004562.2, PARK2 gene)

Transcript name transcript variant 1
Gene name PARK2 (parkinson protein 2, E3 ubiquitin protein ligase (parkin))
Chromosome 6
Transcript - NCBI ID NM_004562.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004553.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

250 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? - c.-262027_*5116666del r.0? p.0?
?/. _1 c.-21G>T r.(?) p.(=)
+/+ 9i_10i c.(1083+1_1084-1)_(1167+1_1168-1)del r.? p.?
+/+ 9i_10i c.(1083+1_1084-1)_(1167+1_1168-1)del r.? p.?
+/+ 9i_10i c.(1083+1_1084-1)_(1167+1_1168-1)dup r.? p.?
+/+ 10i_11i c.(1167+1_1168-1)_(1285+1_1286-1)dup r.? p.?
+/+ 10i_11i c.(1167+1_1168-1)_(1285+1_1286-1)dup r.? p.?
+/+ 11i_12_ c.(1285+1_1286-1)_*2541{0} r.? p.?
+/+ 2i_9i c.(171+1_172-1)_(1083+1_1084-1)del r.? p.?
+/+ 2i_3i c.(171+1_172-1)_(412+1_413-1)del r.? p.?
+/+ 2i_3i c.(171+1_172-1)_(412+1_413-1)del r.? p.?
+/+ 2i_3i c.(171+1_172-1)_(412+1_413-1)dup r.? p.?
+/+ 2i_4i c.(171+1_172-1)_(534+1_535-1)del r.? p.?
+/+ 2i_4i c.(171+1_172-1)_(534+1_535-1)del r.? p.?
+/+ 2i_4i c.(171+1_172-1)_(534+1_535-1)del r.? p.?
+/+ 2i_4i c.(171+1_172-1)_(534+1_535-1)del r.? p.?
+/+ 2i_4i c.(171+1_172-1)_(534+1_535-1)del r.? p.?
+/+ 2i_4i c.(171+1_172-1)_(534+1_535-1)dup r.? p.?
+/+ 2i_5i c.(171+1_172-1)_(618+1_619-1)del r.? p.?
+/+ 2i_5i c.(171+1_172-1)_(618+1_619-1)del r.? p.?
+/+ 2i_5i c.(171+1_172-1)_(618+1_619-1)del r.? p.?
+/+ 2i_6i c.(171+1_172-1)_(734+1_735-1)del r.? p.?
+/+ 2i_6i c.(171+1_172-1)_(734+1_735-1)del r.? p.?
+/+ 2i_7i c.(171+1_172-1)_(871+1_872-1)del r.? p.?
+/+ 3i_4i c.(412+1_413-1)_(534+1_535-1)del r.? p.?
+/+ 3i_4i c.(412+1_413-1)_(534+1_535-1)del r.? p.?
+/+ 3i_4i c.(412+1_413-1)_(534+1_535-1)dup r.? p.?
+/+ 3i_4i c.(412+1_413-1)_(534+1_535-1)dup r.? p.?
+/+ 3i_5i c.(412+1_413-1)_(618+1_619-1)del r.? p.?
+/+ 3i_6i c.(412+1_413-1)_(734+1_735-1)del r.? p.?
+/+ 3i_6i c.(412+1_413-1)_(734+1_735-1)del r.? p.?
+/+ 3i_7i c.(412+1_413-1)_(871+1_872-1)del r.? p.?
+/+ 3i_7i c.(412+1_413-1)_(871+1_872-1)del r.? p.?
+/+ 4i_5i c.(534+1_535-1)_(618+1_619-1)del r.? p.?
+/+ 4i_5i c.(534+1_535-1)_(618+1_619-1)del r.? p.?
+/+ 4i_5i c.(534+1_535-1)_(618+1_619-1)dup r.? p.?
+/+ 4i_5i c.(534+1_535-1)_(618+1_619-1)dup r.? p.?
+/+ 4i_7i c.(534+1_535-1)_(734+1_735-1)del r.? p.?
+/+ 4i_7i c.(534+1_535-1)_(871+1_872-1)del r.? p.?
+/+ 5i_6i c.(618+1_619-1)_(734+1_735-1)del r.? p.?
+/+ 5i_6i c.(618+1_619-1)_(734+1_735-1)dup r.? p.?
+/+ 5i_6i c.(618+1_619-1)_(734+1_735-1)dup r.? p.?
+/+ 5i_7i c.(618+1_619-1)_(871+1_872-1)del r.? p.?
+/+ 5i_7i c.(618+1_619-1)_(871+1_872-1)del r.? p.?
+/+ 5i_7i c.(618+1_619-1)_(871+1_872-1)dup r.? p.?
+/+ 1i_3i c.(7+1_8-1)_(171+1_172-1)del r.? p.?
+/+ 1i_3i c.(7+1_8-1)_(171+1_172-1)del r.? p.?
+/+ 1i_3i c.(7+1_8-1)_(171+1_172-1)del r.? p.?
+/. 1i_3i c.(7+1_8-1)_(171+1_172-1)del r.? p.?
+/+ 1i_3i c.(7+1_8-1)_(171+1_172-1)[3] r.? p.?
+/+ 1i_3i c.(7+1_8-1)_(171+1_172-1)[3] r.? p.?
+/+ 1i_3i c.(7+1_8-1)_(412+1_413-1)del r.? p.?
+/+ 1i_3i c.(7+1_8-1)_(412+1_413-1)del r.? p.?
+/+ 1i_3i c.(7+1_8-1)_(412+1_413-1)dup r.? p.?
+/+ 1i_4i c.(7+1_8-1)_(534+1_535-1)del r.? p.?
+/+ 1i_4i c.(7+1_8-1)_(534+1_535-1)del r.? p.?
+/+ 1i_4i c.(7+1_8-1)_(534+1_535-1)dup r.? p.?
+/+ 1i_4i c.(7+1_8-1)_(534+1_535-1)dup r.? p.?
+/+ 1i_5i c.(7+1_8-1)_(618+1_619-1)del r.? p.?
+/+ 6i_9i c.(734+1_735-1)_(1083+1_1084-1)del r.? p.?
+/+ 6i_7i c.(734+1_735-1)_(871+1_872-1)del r.? p.?
+/+ 6i_7i c.(734+1_735-1)_(871+1_872-1)del r.? p.?
+/+ 6i_7i c.(734+1_735-1)_(871+1_872-1)del r.? p.?
+/+ 6i_7i c.(734+1_735-1)_(871+1_872-1)dup r.? p.?
+/+ 7i_9i c.(871+1_872-1)_(1083+1_1084-1)del r.? p.?
+/+ 7i_8i c.(871+1_872-1)_(933+1_934-1)del r.? p.?
+/+ 7i_8i c.(871+1_872-1)_(933+1_934-1)dup r.? p.?
+/+ 7i_8i c.(871+1_872-1)_(933+1_934-1)dup r.? p.?
+/+ 8i_9i c.(933+1_934-1)_(1083+1_1084-1)dup r.? p.?
+/+ _1_4i c.-125_(534+1_535-1){0} r.0? p.0?
+/+ _1_1i c.-125_(7+1_8-1){0} r.0? p.0?
+/+ _1_1i c.-125_(7+1_8-1){0} r.0? p.0?
+/+ _1_1i c.-125_(7+1_8-1){2} r.0? p.0?
+/. - c.1A>G r.(?) p.(Met1?)
+/+ 1 c.1A>T r.(?) p.0?
+/+ 1i c.7+1G>A r.spl p.?
-?/. - c.7+4C>T r.spl? p.?
+?/. - c.8-60777_171+26821del r.? p.(Val3Glufs*3)
?/. - c.23A>C r.(?) p.(Asn8Thr)
?/. 2 c.34G>C r.(?) p.(Gly12Arg)
?/. 2 c.43G>A r.(?) p.(Val15Met)
-?/. - c.48G>A r.(?) p.(Glu16=)
?/. 2 c.52G>A r.(?) p.(Asp18Asn)
?/. 2 c.95A>C r.(?) p.(Lys32Thr)
+/+ 2 c.97C>T r.(?) p.(Arg33*)
?/. 2 c.98G>A r.(?) p.(Arg33Gln)
-/. - c.101A>G r.(?) p.(Gln34Arg)
+/+ 2 c.101del r.(?) p.(Gln34Argfs*10)
+/+ 2 c.101del r.(?) p.(Gln34Argfs*10)
+/. - c.101_102del r.(?) p.(Gln34ArgfsTer5)
+/. - c.101_102del r.(?) p.(Gln34ArgfsTer5)
+/+ 2 c.101_102del r.(?) p.(Gln34Argfs*5)
?/. - c.110C>T r.(?) p.(Pro37Leu)
?/. 2 c.110C>T r.(?) p.(Pro37Leu)
?/. 2 c.125G>C r.(?) p.(Arg42Pro)
-/. - c.136G>A r.(?) p.(Ala46Thr)
?/. 2 c.136G>C r.(?) p.(Ala46Pro)
+/+ 2 c.154_155del r.(?) p.(Asn52*)
+/. - c.155del r.(?) p.(Asn52MetfsTer29)
+/+ 2 c.155del r.(?) p.(Asn52Metfs*29)
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