Transcript #00005401

Transcript name excision repair cross-complementing rodent repair deficiency, complementation group 6-like
Gene name ERCC6L (excision repair cross-complementing rodent repair deficiency, complementation group 6-like)
Chromosome X
Transcript - NCBI ID NM_017669.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_060139.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

84 entries on 1 page. Showing entries 1 - 84.
Legend  

Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-44G>A r.(=) p.(=)
?/? c.-40C>T r.(=) p.(=)
?/? c.-44_-38del r.(=) p.(=)
?/? c.-33_-32insAAACTCC r.(=) p.(=)
?/? c.-20T>G r.(=) p.(=)
?/? c.39G>A r.(=) p.(=)
?/? c.68+5G>A r.spl? p.?
?/? c.69-7_69-6insT r.(=) p.(=)
?/? c.159T>A r.(?) p.(Asn53Lys)
?/? c.204G>A r.(=) p.(=)
?/? c.208T>G r.(?) p.(Leu70Val)
?/? c.214G>A r.(?) p.(Glu72Lys)
?/? c.266A>G r.(?) p.(Tyr89Cys)
?/? c.269G>A r.(?) p.(Arg90Gln)
?/? c.358T>C r.(=) p.(=)
?/? c.411C>T r.(=) p.(=)
?/? c.412G>A r.(?) p.(Gly138Ser)
?/? c.428C>T r.(?) p.(Ser143Leu)
?/? c.498G>A r.(=) p.(=)
?/? c.561C>T r.(=) p.(=)
?/? c.566A>G r.(?) p.(Asn189Ser)
?/? c.684T>A r.(?) p.(Asp228Glu)
?/? c.734G>A r.(?) p.(Arg245His)
?/? c.778A>G r.(?) p.(Ile260Val)
?/? c.801A>G r.(=) p.(=)
?/? c.1027G>C r.(?) p.(Ala343Pro)
?/? c.1037A>T r.(?) p.(Asn346Ile)
?/? c.1192C>T r.(?) p.(Arg398Cys)
?/? c.1193G>A r.(?) p.(Arg398His)
?/? c.1361C>G r.(?) p.(Thr454Arg)
?/? c.1389A>C r.(=) p.(=)
?/? c.1494T>C r.(=) p.(=)
?/? c.1537C>T r.(?) p.(Leu513Phe)
?/? c.1561A>C r.(?) p.(Asn521His)
?/? c.1575A>G r.(=) p.(=)
?/? c.1590T>C r.(=) p.(=)
?/? c.1692T>C r.(=) p.(=)
?/? c.1697C>T r.(?) p.(Ala566Val)
?/? c.1881C>A r.(=) p.(=)
?/? c.1886C>T r.(?) p.(Thr629Ile)
?/? c.1891G>C r.(?) p.(Glu631Gln)
?/? c.2011A>C r.(?) p.(Ile671Leu)
?/? c.2258A>G r.(?) p.(Gln753Arg)
?/? c.2276G>A r.(?) p.(Ser759Asn)
?/? c.2288C>T r.(?) p.(Thr763Ile)
?/? c.2330T>C r.(?) p.(Ile777Thr)
?/? c.2341C>T r.(?) p.(Pro781Ser)
?/? c.2479A>G r.(?) p.(Asn827Asp)
?/? c.2519A>G r.(?) p.(Asn840Ser)
?/? c.2536G>C r.(?) p.(Glu846Gln)
?/? c.2541A>G r.(=) p.(=)
?/? c.2584C>T r.(=) p.(=)
?/? c.2598T>C r.(=) p.(=)
?/? c.2601T>C r.(=) p.(=)
?/? c.2672G>A r.(?) p.(Arg891His)
?/? c.2688G>T r.(?) p.(Trp896Cys)
?/? c.2888A>G r.(?) p.(Asn963Ser)
?/? c.2965A>G r.(?) p.(Arg989Gly)
?/? c.2997C>T r.(=) p.(=)
?/? c.3034G>A r.(?) p.(Glu1012Lys)
?/? c.3035_3037del r.(?) p.(Glu1012del)
?/? c.3039A>G r.(=) p.(=)
?/? c.3090C>T r.(=) p.(=)
?/? c.3156A>G r.(=) p.(=)
?/? c.3219G>T r.(?) p.(Arg1073Ser)
?/? c.3346_3348del r.(?) p.(Asp1116del)
?/? c.3350G>T r.(?) p.(Ser1117Ile)
?/? c.3382G>A r.(?) p.(Glu1128Lys)
?/? c.3391G>A r.(?) p.(Val1131Met)
?/? c.3393G>A r.(=) p.(=)
?/? c.3408C>T r.(=) p.(=)
?/? c.3430G>A r.(?) p.(Glu1144Lys)
?/? c.3441C>T r.(=) p.(=)
?/? c.3442G>A r.(?) p.(Gly1148Arg)
?/? c.3475T>C r.(?) p.(Trp1159Arg)
?/? c.3486G>A r.(=) p.(=)
?/? c.3552G>A r.(=) p.(=)
?/? c.3600T>C r.(=) p.(=)
?/? c.3617G>A r.(?) p.(Arg1206His)
?/? c.3627A>G r.(=) p.(=)
?/? c.3677C>T r.(?) p.(Ala1226Val)
?/? c.*3A>G r.(=) p.(=)
?/? c.*9C>T r.(=) p.(=)
?/? c.*31G>A r.(=) p.(=)
Legend