Transcript #00000175 (NM_005236.2, ERCC4 gene)

Transcript name excision repair cross-complementing rodent repair deficiency, complementation group 4
Gene name ERCC4 (excision repair cross-complementing rodent repair deficiency, complementation group 4)
Chromosome 16
Transcript - NCBI ID NM_005236.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_005227.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     
-/. - c.33C>T r.(=) p.(=) -
-/. - c.33C>T r.(?) p.(Ala11=) -
-/. - c.33C>T r.(=) p.(=) -
-?/. - c.37G>A r.(?) p.(Ala13Thr) -
-?/. - c.83A>G r.(?) p.(Asp28Gly) -
-?/. - c.86C>A r.(?) p.(Thr29Asn) -
-/. - c.207+11G>A r.(=) p.(=) -
-?/. - c.252C>T r.(=) p.(=) -
-/. - c.252C>T r.(?) p.(Leu84=) -
-/. - c.252C>T r.(?) p.(Leu84=) -
-/. - c.252C>T r.(?) p.(Leu84=) -
+/. 2i_4i c.388+1164_792+795del r.389_792del p.Gly130Aspfs*18 -
+/. 2i_3i c.(388+1_389-1)_(584+1_585-1)del r.? p.? -
?/. - c.409C>G r.(?) p.(His137Asp) -
+?/? 3 c.448C>T r.(?) p.(Arg150Cys) -
+/. - c.458G>C r.(?) p.(Arg153Pro) -
+/. - c.458G>C r.(?) p.(Arg153Pro) -
+/. - c.516_517del r.(?) p.(Thr173Trpfs*37) -
+?/? 3 c.540_541del r.(?) p.(Arg180Serfs*30) -
+?/? 3i c.584+1G>A r.389_584del p.Ile131fs -
-?/. - c.590A>G r.(?) p.(His197Arg) -
+/+ 4 c.689T>C r.(?) p.(Leu230Pro) FA
+/. - c.706T>C r.(?) p.(Cys236Arg) -
+/. - c.706T>C r.706u>c p.Cys236Arg -
-?/? 5 c.800G>A r.(?) p.(Arg267His) -
?/. - c.809T>C r.(?) p.(Leu270Pro) -
-/. - c.974-7G>A r.(=) p.(=) -
-?/. - c.974-6T>C r.(=) p.(=) -
-?/. - c.1002G>A r.(?) p.(Ser334=) -
+/. - c.1069dup r.(?) p.(Ile357Asnfs*3) -
-?/. - c.1102+20C>T r.(=) p.(=) -
?/. - c.1135C>T r.(?) p.(Pro379Ser) -
-?/. - c.1135C>T r.(?) p.(Pro379Ser) -
-?/. - c.1135C>T r.(?) p.(Pro379Ser) -
?/. - c.1135C>T r.(?) p.(Pro379Ser) -
-/. - c.1135C>T r.(?) p.(Pro379Ser) -
+/. - c.1135C>T r.(?) p.(Pro379Ser) -
-?/. - c.1179A>G r.(?) p.(Ala393=) -
-?/. - c.1244G>A r.(?) p.(Arg415Gln) -
-/. - c.1244G>A r.(?) p.(Arg415Gln) -
-?/. - c.1244G>A r.(?) p.(Arg415Gln) -
?/. - c.1271T>C r.(?) p.(Ile424Thr) -
?/. - c.1288G>A r.(?) p.(Ala430Thr) -
-?/. - c.1334A>C r.(?) p.(Lys445Thr) -
-?/. - c.1469G>A r.(?) p.(Arg490Gln) -
+/+ 8 c.1484_1488del r.(?) p.(Thr495Asnfs*6) FA
-?/. - c.1488A>T r.(?) p.(Gln496His) -
+/. - c.1488A>T r.1488a>u p.Gln496His -
-?/. - c.1563C>G r.(?) p.(Ser521Arg) -
?/. - c.1727G>C r.(?) p.(Arg576Thr) -
?/. - c.1727G>C r.(?) p.(Arg576Thr) -
+/. - c.1730dup r.(?) p.(Tyr577*) -
+/. - c.1765C>T r.1765c>u p.Arg589Trp -
+/. - c.1765C>T r.(?) p.(Arg589Trp) -
+/. - c.1765C>T r.(?) p.(Arg589Trp) -
+/. - c.1765C>T r.(?) p.(Arg589Trp) -
-?/. - c.1812-5T>C r.spl? p.? -
?/. - c.1853G>A r.(?) p.(Arg618His) -
-?/? 9 c.1861A>G r.(?) p.(Thr621Ala) -
-/. - c.1884A>G r.(?) p.(Glu628=) -
-/. - c.1984T>C r.(?) p.(Ser662Pro) -
+?/? 11 c.2065C>A r.(?) p.(Arg689Ser) -
+/+ 11 c.2065C>A r.(?) p.(Arg689Ser) FA
?/. - c.2080G>A r.(?) p.(Glu694Lys) -
-/. - c.2108G>A r.(?) p.(Gly703Asp) -
?/. - c.2117T>C r.(?) p.(Ile706Thr) -
+/. - c.2169C>A r.(?) p.(Cys723Ter) -
+/. - c.2169C>A r.(?) p.(Cys723Ter) -
?/. 11 c.2169C>A r.(?) p.(Cys723*) -
+?/? 11 c.2291del r.(?) p.(Ser764Thrfs*53) -
?/. - c.2292C>T r.(?) p.(Ser764=) -
+/. - c.2304_2307del r.2304_2307del p.Thr770Profs*46 -
+/. - c.2314del r.(?) p.(Arg772Glufs*45) -
+?/? 11 c.2357C>T r.(?) p.(Ser786Phe) -
+/+ 11 c.2371_2398dup r.(?) p.(Ile800Thrfs*24) FA
?/. - c.2395C>T r.(?) p.(Arg799Trp) -
+/. - c.2395C>T r.(?) p.(Arg799Trp) -
?/. 11 c.2395C>T r.(?) p.(Arg799Trp) -
?/. - c.2395C>T r.(?) p.(Arg799Trp) -
+/. - c.2395C>T r.2395c>u p.Arg799Trp -
+/. - c.2395C>T r.(?) p.(Arg799Trp) -
+/. 11 c.2395C>T r.(?) p.(Arg799Trp) -
+/. - c.2395C>T r.(?) p.(Arg799Trp) -
+/. - c.2395C>T r.(?) p.(Arg799Trp) -
+/. - c.2395C>T r.(?) p.(Arg799Trp) -
+/. - c.2395C>T r.(?) p.(Arg799Trp) -
+/. 11 c.2395C>T r.(?) p.(Arg799Trp) -
+/. - c.2395C>T r.(?) p.(Arg799Trp) -
?/. - c.2459A>G r.(?) p.(Lys820Arg) -
-/. - c.2505T>C r.(?) p.(Ser835=) -
-/. - c.2505T>C r.(?) p.(=) -
+/. - c.2579C>A r.2579c>a p.Ala860Asp -
-?/. - c.2624A>G r.(?) p.(Glu875Gly) -
-?/. - c.2624A>G r.(?) p.(Glu875Gly) -
-/. - c.2624A>G r.(?) p.(Glu875Gly) -
-?/. - c.2624A>G r.(?) p.(Glu875Gly) -
-?/. - c.2647G>A r.(?) p.(Glu883Lys) -
-?/. - c.2655G>A r.(=) p.(=) -
-/. - c.2655G>A r.(?) p.(Thr885=) -
-/. - c.2655G>A r.(?) p.(Thr885=) -
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