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Results for the Protein: Q99741
50400620
990

CDC6_HUMAN RecName: Full=Cell division control protein 6 homolog; AltName: Full=CDC6-related protein; AltName: Full=Cdc18-related protein; Short=HsCdc18; AltName: Full=p62(cdc6); Short=HsCDC6

Known Diseases associated with this Protein:
  MEIER-GORLIN SYNDROME 5
  MEIER-GORLIN SYNDROME 5 (MGORS5)
2
5
1
2
4
Tips:
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Default View:

CDC6 - COG1474
AAA - cd00009
AAA - smart00382
AAA - pfam00004
Cdc6_C - cd08768
Cdc6_C - pfam09079


Swiss-Prot Protein: Q99741
Identical to: NP_001245
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CDC6COG14741.6e-50154551
AAAcd000093.5e-14177345
Cdc6_Ccd087683.6e-18458541
AAApfam000048.9e-08198339
AAAsmart003820.00019194337
Cdc6_Cpfam090791.5e-15465545

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019352Polymorphismp.ARG378HISN/A
Swiss-ProtVAR_019350Polymorphismp.ASP295ASNN/A
Swiss-ProtVAR_019349Polymorphismp.THR238ALAN/A
Swiss-ProtVAR_065493Diseasep.THR323ARGMeier-Gorlin syndrome 5 (MGORS5)
dbSNPrs4135013 Polymorphismp.THR299METN/A
dbSNPrs13706 Polymorphismp.VAL441ILEN/A
OMIM602627.0001 Diseasep.THR323ARGMEIER-GORLIN SYNDROME 5



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