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Results for the Protein: Q8HWS3
166225159

RFX6_HUMAN RecName: Full=DNA-binding protein RFX6; AltName: Full=Regulatory factor X 6; AltName: Full=Regulatory factor X domain-containing protein 1

Known Diseases associated with this Protein:
  AND GALLBLADDER APLASIA OR HYPOPLASIA
  DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA,
  MITCHELL-RILEY SYNDROME (MIRIS)
4
4
2
0
6
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Default View:

RFX_DNA_binding - pfam02257


Swiss-Prot Protein: Q8HWS3
Identical to: NP_775831
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RFX_DNA_bindingpfam022571.4e-39116189

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_061768Polymorphismp.ALA17GLUN/A
Swiss-ProtVAR_062978Diseasep.ARG181GLNMitchell-Riley syndrome (MIRIS)
Swiss-ProtVAR_037709Polymorphismp.GLU6LYSN/A
Swiss-ProtVAR_037711Polymorphismp.SER743ASNN/A
Swiss-ProtVAR_062979Diseasep.SER217PROMitchell-Riley syndrome (MIRIS)
Swiss-ProtVAR_037710Polymorphismp.THR688ALAN/A
OMIM612659.0005 Diseasep.ARG181GLNDIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA,||AND GALLBLADDER APLASIA OR HYPOPLASIA
OMIM612659.0004 Diseasep.SER217PRODIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA,||AND GALLBLADDER APLASIA OR HYPOPLASIA



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