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Results for the Protein: NP_001177748
299890795

origin recognition complex subunit 1 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  MEIER-GORLIN SYNDROME 1
5
4
5
4
0
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Default View:

BAH - cd04370
BAH_Orc1p_animal - cd04719
BAH - pfam01426
BAH - smart00439
CDC6 - COG1474
AAA - cd00009
AAA - smart00382
AAA - pfam00004
Cdc6_C - cd08768
Cdc6_C - pfam09079




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BAH_Orc1p_animalcd047195.1e-7744170
CDC6COG14746.5e-36480856
AAAcd000094.9e-08500675
Cdc6_Ccd087682.7e-19766849
BAHpfam014262.5e-2945169
AAApfam000041.9e-19525670
BAHsmart004391.5e-3146169
AAAsmart003822e-09521672
Cdc6_Cpfam090792.7e-17773853

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3087482 Polymorphismp.GLN180HISN/A
dbSNPrs34521609 Polymorphismp.MET811THRN/A
dbSNPrs3087481 Polymorphismp.THR461METN/A
dbSNPrs3087477 Polymorphismp.VAL190METN/A
OMIM601902.0003 Diseasep.ARG105GLNMEIER-GORLIN SYNDROME 1
OMIM601902.0004 Diseasep.ARG715GLNMEIER-GORLIN SYNDROME 1
OMIM601902.0007 Diseasep.ARG661TRPMEIER-GORLIN SYNDROME 1
OMIM601902.0001 Diseasep.GLU127GLYMEIER-GORLIN SYNDROME 1
OMIM601902.0002 Diseasep.PHE89SERMEIER-GORLIN SYNDROME 1



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