Transcript #00000962

Transcript name transcript variant 1
Gene name ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)
Chromosome 5
Transcript - NCBI ID NM_000082.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000073.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

29 entries on 1 page. Showing entries 1 - 29.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-307C>T r.(?) p.(=)
+?/. - c.37G>T r.(?) p.(Glu13*)
+?/. 4 c.295_297delinsTG r.(?) p.(Arg99Cysfs*26)
+/. - c.313_314del r.(?) p.(Val105ThrfsTer6)
+/. - c.316C>T r.(?) p.(Gln106Ter)
+/. - c.317_320dup r.(?) p.(Trp107Ter)
-?/. - c.363T>C r.(?) p.(Asp121=)
+?/. - c.427del r.(?) p.(Thr143Glnfs*17)
-/. - c.435T>C r.(?) p.(Tyr145=)
+/. ? c.478G>A r.(?) p.(Ala160Thr)
+/. ? c.479C>T r.(?) p.(Ala160Val)
+/. ? c.582G>C r.(?) p.(Trp194Cys)
+/. ? c.605T>C r.(?) p.(Leu202Ser)
+/. ? c.613G>C r.(?) p.(Ala205Pro)
+/. - c.719-1G>A r.spl? p.?
?/. - c.784A>G r.(?) p.(Thr262Ala)
+/. ? c.797A>G r.(?) p.(Asp266Gly)
+/. - c.797A>G r.(?) p.(Asp266Gly)
+?/. - c.797A>G r.(?) p.(Asp266Gly)
?/. - c.839C>A r.(?) p.(Thr280Lys)
+?/. - c.843+5G>C r.spl? p.?
-?/. 9i c.844-1309G>A r.(?) p.(=)
-?/. 9i c.844-1309G>A r.(?) p.(=)
-?/. 9i c.844-1055dup r.(?) p.(=)
-?/. 9i c.844-577dup r.(?) p.(=)
-?/. 9i c.844-577dup r.(=) p.(=)
?/. - c.1016G>A r.(?) p.(Cys339Tyr)
+/. ? c.1083G>T r.(?) p.(Trp361Cys)
?/. - c.1105G>C r.(?) p.(Val369Leu)
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