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Results for the Protein: NP_056958
42560229

recombining binding protein suppressor of hairless isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  ADAMS-OLIVER SYNDROME 3
2
1
2
1
0
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Default View:

LAG1-DNAbind - pfam09271
BTD - pfam09270
IPT_RBP-Jkappa - cd01176
IPT_TF - cd00602
IPT - cd00102
TIG - pfam01833


RefSeq Protein: NP_056958
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IPT_TFcd006021.4e-41339433
IPTcd001021.7e-09342433
TIGpfam018331.1e-05342431
LAG1-DNAbindpfam092711.7e-7934165
BTDpfam092705.3e-103166315

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs75014045 Polymorphismp.THR184ARGN/A
OMIM147183.0001 Diseasep.GLU50GLYADAMS-OLIVER SYNDROME 3
OMIM147183.0002 Diseasep.LYS156GLUADAMS-OLIVER SYNDROME 3



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