Transcript #00005397

Transcript name excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)
Gene name ERCC3 (excision repair cross-complementing rodent repair deficiency, complementation group 3)
Chromosome 2
Transcript - NCBI ID NM_000122.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_000113.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-43_-36del r.(=) p.(=)
?/? c.-36G>C r.(=) p.(=)
?/? c.-34G>A r.(=) p.(=)
?/? c.-19C>T r.(=) p.(=)
?/? c.-16_-15insCT r.(=) p.(=)
?/? c.6C>G r.(=) p.(=)
?/? c.28+40T>C r.(=) p.(=)
?/? c.28+56C>T r.(=) p.(=)
?/? c.79G>A r.(?) p.(Glu27Lys)
?/? c.126G>A r.(=) p.(=)
?/? c.144G>C r.(?) p.(Glu48Asp)
?/? c.186G>A r.(=) p.(=)
?/? c.211C>T r.(?) p.(His71Tyr)
?/? c.216C>T r.(=) p.(=)
?/? c.234+9G>T r.(=) p.(=)
?/? c.234+39G>A r.(=) p.(=)
?/? c.234+40C>T r.(=) p.(=)
?/? c.279C>T r.(=) p.(=)
?/? c.314A>G r.(?) p.(Glu105Gly)
?/? c.325C>T r.(?) p.(Arg109*)
?/? c.359C>T r.(?) p.(Ala120Val)
?/? c.385G>A r.(?) p.(Val129Ile)
?/? c.437C>T r.(?) p.(Thr146Ile)
?/? c.461A>G r.(?) p.(Gln154Arg)
?/? c.471+30C>T r.(=) p.(=)
?/? c.471+52A>G r.(=) p.(=)
?/? c.472-10G>A r.(=) p.(=)
?/? c.488A>G r.(?) p.(Tyr163Cys)
?/? c.521+43T>C r.(=) p.(=)
?/? c.521+48C>T r.(=) p.(=)
?/? c.522-21T>G r.(=) p.(=)
?/? c.529G>A r.(?) p.(Val177Ile)
?/? c.546T>C r.(=) p.(=)
?/? c.550G>A r.(?) p.(Val184Ile)
?/? c.577G>A r.(?) p.(Val193Met)
?/? c.583C>G r.(?) p.(Arg195Gly)
?/? c.615G>A r.(=) p.(=)
?/? c.618C>T r.(=) p.(=)
?/? c.620C>G r.(?) p.(Thr207Ser)
?/? c.655G>A r.(?) p.(Ala219Thr)
?/? c.657+16G>C r.(=) p.(=)
?/? c.657+24T>G r.(=) p.(=)
?/? c.657+30G>A r.(=) p.(=)
?/? c.657+36A>T r.(=) p.(=)
?/? c.658-30G>A r.(=) p.(=)
?/? c.658-25C>T r.(=) p.(=)
?/? c.658-24G>C r.(=) p.(=)
?/? c.658-7C>G r.(=) p.(=)
?/? c.659T>G r.(?) p.(Ile220Ser)
?/? c.714A>G r.(=) p.(=)
?/? c.741C>T r.(=) p.(=)
?/? c.789_791del r.(?) p.(Glu264del)
?/? c.822+14C>T r.(=) p.(=)
?/? c.823-49T>C r.(=) p.(=)
?/? c.823-21C>T r.(=) p.(=)
?/? c.847C>T r.(?) p.(Arg283Cys)
?/? c.877G>A r.(?) p.(Ala293Thr)
?/? c.890T>C r.(?) p.(Phe297Ser)
?/? c.893G>A r.(?) p.(Arg298Gln)
?/? c.927C>T r.(=) p.(=)
?/? c.930A>G r.(=) p.(=)
?/? c.973C>T r.(?) p.(Arg325*)
?/? c.993G>A r.(=) p.(=)
?/? c.1004C>T r.(?) p.(Ser335Leu)
?/? c.1005G>A r.(=) p.(=)
?/? c.1008G>A r.(=) p.(=)
?/? c.1027G>A r.(?) p.(Gly343Ser)
?/? c.1027+3A>G r.spl? p.?
?/? c.1027+27G>A r.(=) p.(=)
?/? c.1028-11G>A r.(=) p.(=)
?/? c.1049G>T r.(?) p.(Gly350Val)
?/? c.1053G>C r.(=) p.(=)
?/? c.1076A>G r.(?) p.(Lys359Arg)
?/? c.1096A>G r.(?) p.(Asn366Asp)
?/? c.1111G>C r.(?) p.(Val371Leu)
?/? c.1116G>A r.(=) p.(=)
?/? c.1119G>A r.(=) p.(=)
?/? c.1120_1121insAGCAGT r.(?) p.(Trp374*)
?/? c.1155C>T r.(=) p.(=)
?/? c.1156G>A r.(?) p.(Asp386Asn)
?/? c.1159A>T r.(?) p.(Ser387Cys)
?/? c.1163A>G r.(?) p.(Gln388Arg)
?/? c.1212C>T r.(=) p.(=)
?/? c.1213G>A r.(?) p.(Val405Ile)
?/? c.1245C>T r.(=) p.(=)
?/? c.1335C>T r.(=) p.(=)
?/? c.1342+8G>T r.(=) p.(=)
?/? c.1342+19A>G r.(=) p.(=)
?/? c.1342+20_1342+21insAG r.(=) p.(=)
?/? c.1348A>G r.(?) p.(Met450Val)
?/? c.1354C>T r.(?) p.(Arg452*)
?/? c.1403C>T r.(?) p.(Ala468Val)
?/? c.1410C>T r.(=) p.(=)
?/? c.1411G>A r.(?) p.(Val471Ile)
?/? c.1421_1422insA r.(?) p.(Asp474Glufs*2)
?/? c.1451T>C r.(?) p.(Ile484Thr)
?/? c.1468G>A r.(?) p.(Glu490Lys)
?/? c.1485G>A r.(=) p.(=)
?/? c.1493A>G r.(?) p.(Asn498Ser)
?/? c.1523del r.(?) p.(Ala508Valfs*29)
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