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Results for the Protein: Q03468
416959

ERCC6_HUMAN RecName: Full=DNA excision repair protein ERCC-6; AltName: Full=ATP-dependent helicase ERCC6; AltName: Full=Cockayne syndrome protein CSB

Known Diseases associated with this Protein:
  CEREBRO-OCULO-FACIO-SKELETAL SYNDROME 1 (COFS1)
  CEREBROOCULOFACIOSKELETAL SYNDROME 1
  COCKAYNE SYNDROME B
  COCKAYNE SYNDROME B (CSB)
  DE SANCTIS-CACCHIONE SYNDROME, INCLUDED
  UV-SENSITIVE SYNDROME 1
17
33
8
8
34
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Default View:

HepA - COG0553
DEXDc - smart00487
SNF2_N - pfam00176
DEXDc - cd00046
HELICc - cd00079
HELICc - smart00490
Helicase_C - pfam00271


Swiss-Prot Protein: Q03468
Identical to: NP_000115
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HepACOG05537.8e-1561461008
DEXDccd000468.7e-28526677
HELICccd000792.1e-32828960
SNF2_Npfam001761.7e-143510810
Helicase_Cpfam002715.6e-24873952
DEXDcsmart004872.3e-32499707
HELICcsmart004907.3e-23869952

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_001224Polymorphismp.ARG1213GLYN/A
Swiss-ProtVAR_036022Polymorphismp.ARG652LEUN/A
Swiss-ProtVAR_016305Polymorphismp.ARG1230PRON/A
Swiss-ProtVAR_036023Polymorphismp.ARG1038THRN/A
Swiss-ProtVAR_054153Polymorphismp.ARG134TRPN/A
Swiss-ProtVAR_001218Diseasep.ARG670TRPCockayne syndrome B (CSB)
Swiss-ProtVAR_063511Diseasep.ASN680ASPCockayne syndrome B (CSB)
Swiss-ProtVAR_016301Polymorphismp.ASP425ALAN/A
Swiss-ProtVAR_037437Polymorphismp.ASP1355GLUN/A
Swiss-ProtVAR_001225Polymorphismp.GLN1413ARGN/A
Swiss-ProtVAR_036024Polymorphismp.GLU1119GLNN/A
Swiss-ProtVAR_036025Polymorphismp.GLU1119VALN/A
Swiss-ProtVAR_016308Polymorphismp.GLY1372ARGN/A
Swiss-ProtVAR_016309Polymorphismp.GLY1382ARGN/A
Swiss-ProtVAR_016310Polymorphismp.GLY1410ARGN/A
Swiss-ProtVAR_001217Polymorphismp.GLY399ASPN/A
Swiss-ProtVAR_016302Polymorphismp.GLY446ASPN/A
Swiss-ProtVAR_016307Polymorphismp.GLY1322VALN/A
Swiss-ProtVAR_063514Diseasep.LEU871PROCerebro-oculo-facio-skeletal syndrome 1 (COFS1)
Swiss-ProtVAR_063515Diseasep.LEU987PROCerebro-oculo-facio-skeletal syndrome 1 (COFS1)
Swiss-ProtVAR_001216Polymorphismp.LYS255THRN/A
Swiss-ProtVAR_001223Polymorphismp.MET1097VALN/A
Swiss-ProtVAR_036021Polymorphismp.PRO591ALAN/A
Swiss-ProtVAR_001222Polymorphismp.PRO1095ARGN/A
Swiss-ProtVAR_001221Diseasep.PRO1042LEUCockayne syndrome B (CSB)
Swiss-ProtVAR_063513Diseasep.SER687LEUCockayne syndrome B (CSB)
Swiss-ProtVAR_037436Polymorphismp.THR1220ILEN/A
Swiss-ProtVAR_016311Polymorphismp.THR1441ILEN/A
Swiss-ProtVAR_016303Polymorphismp.THR942METN/A
Swiss-ProtVAR_001219Diseasep.TRP851ARGCockayne syndrome B (CSB)
Swiss-ProtVAR_063512Diseasep.TRP686CYSCockayne syndrome B (CSB)
Swiss-ProtVAR_016304Polymorphismp.TYR1002CYSN/A
Swiss-ProtVAR_001220Diseasep.VAL957GLYCockayne syndrome B (CSB)
Swiss-ProtVAR_016306Polymorphismp.VAL1308LEUN/A
dbSNPrs2228527 Polymorphismp.ARG1213GLYN/A
dbSNPrs4253211 Polymorphismp.ARG1230PRON/A
dbSNPrs2228529 Polymorphismp.GLN1413ARGN/A
dbSNPrs2228528 Polymorphismp.GLY399ASPN/A
dbSNPrs4253219 Polymorphismp.GLY1322VALN/A
dbSNPrs2228526 Polymorphismp.MET1097VALN/A
dbSNPrs4253230 Polymorphismp.THR1441ILEN/A
dbSNPrs2228525 Polymorphismp.THR942METN/A
OMIM609413.0015 Diseasep.ARG1288TERCEREBROOCULOFACIOSKELETAL SYNDROME 1
OMIM609413.0004 Diseasep.ARG453TERCOCKAYNE SYNDROME B
OMIM609413.0012 Diseasep.ARG683TERCEREBROOCULOFACIOSKELETAL SYNDROME 1
OMIM609413.0002 Diseasep.ARG735TERCOCKAYNE SYNDROME B||DE SANCTIS-CACCHIONE SYNDROME, INCLUDED
OMIM609413.0009 Diseasep.ARG77TERUV-SENSITIVE SYNDROME 1
OMIM609413.0013 Diseasep.LEU987PROCEREBROOCULOFACIOSKELETAL SYNDROME 1
OMIM609413.0008 Diseasep.PRO1095ARGCOCKAYNE SYNDROME B
OMIM609413.0001 Diseasep.TRP517TERCOCKAYNE SYNDROME B



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