Transcript #00007205 (NM_001983.3, ERCC1 gene)

Transcript name transcript variant 2
Gene name ERCC1 (excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence))
Chromosome 19
Transcript - NCBI ID NM_001983.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001974.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

44 entries on 1 page. Showing entries 1 - 44.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.78C>T r.(?) p.(Leu26=)
-?/. - c.183C>T r.(?) p.(Ala61=)
?/. - c.203C>T r.(?) p.(Pro68Leu)
-?/. - c.204T>C r.(?) p.(Pro68=)
-?/. - c.225G>A r.(?) p.(Thr75=)
?/. - c.225G>A r.(=) p.(=)
-?/. - c.289A>G r.(?) p.(Lys97Glu)
+/. 3i_5i c.321+61_525+132del r.(322_525del) p.(Arg108_Val175del)
+/. 3i_5i c.321+61_525+132del r.(322_525del) p.(Arg108_Val175del)
-/. - c.354T>C r.(?) p.(Asn118=)
?/. - c.375C>T r.(?) p.(Asp125=)
-?/. - c.384C>T r.(?) p.(Pro128=)
-/. - c.390T>C r.(?) p.(Tyr130=)
+/. - c.466C>T r.(?) p.(Arg156Trp)
+/. - c.466C>T r.(?) p.(Arg156Trp)
+/. - c.472C>T r.472c>u p.Gln158*
-?/. - c.493G>A r.(?) p.(Ala165Thr)
+?/. - c.525+2T>C r.spl? p.?
+/. - c.526-1G>A r.spl? p.?
-?/. - c.594C>T r.(?) p.(Leu198=)
-/. - c.603-27C>T r.(=) p.(=)
+/. 6i c.603-26G>A r.spl p.(=)
?/. - c.620G>A r.(?) p.(Arg207Gln)
+/. - c.676A>T r.(?) p.(Lys226*)
+/. - c.693C>G r.693c>g p.Phe231Leu
+/. 7 c.693C>G r.(?) p.(Phe231Leu)
?/. - c.700C>A r.(?) p.(Arg234=)
-?/. - c.723C>T r.(?) p.(Thr241=)
?/. - c.749G>A r.(?) p.(Ser250Asn)
?/. - c.767C>T r.(?) p.(Thr256Ile)
?/. - c.774+6G>A r.(=) p.(=)
?/. - c.796G>A r.(?) p.(Ala266Thr)
?/. - c.799T>C r.(?) p.(Ser267Pro)
-?/. - c.843+6A>G r.(=) p.(=)
-?/. - c.843+28A>T r.(=) p.(=)
-/. - c.843+32G>A r.(=) p.(=)
-?/. - c.843+105C>G r.(=) p.(=)
-?/. - c.857T>C r.(?) p.(Phe286Ser)
-/. - c.*9G>C r.(=) p.(=)
-?/. - c.*16A>G r.(=) p.(=)
?/. - c.*690C>G r.(=) p.(=)
-?/. - c.*715T>C r.(=) p.(=)
-/. - c.*863T>C r.(=) p.(=)
-?/. - c.*1075C>T r.(=) p.(=)
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