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Results for the Protein: Q92908
215273987

GATA6_HUMAN RecName: Full=Transcription factor GATA-6; AltName: Full=GATA-binding factor 6

Known Diseases associated with this Protein:
  ATRIAL SEPTAL DEFECT 9
  ATRIOVENTRICULAR SEPTAL DEFECT 5
  ATRIOVENTRICULAR SEPTAL DEFECT 5 (AVSD5)
  CONOTRUNCAL HEART MALFORMATIONS (CTHM)
  PANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS
  PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS (PACHD)
  PERSISTENT TRUNCUS ARTERIOSUS
  TETRALOGY OF FALLOT
  TETRALOGY OF FALLOT (TOF)
  TETRALOGY OF FALLOT, INCLUDED
18
2
9
0
11
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Default View:

GATA-N - pfam05349
ZnF_GATA - smart00401
ZnF_GATA - cd00202
GATA - pfam00320


Swiss-Prot Protein: Q92908
Identical to: NP_005248
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZnF_GATAcd002023.8e-24389440
ZnF_GATAcd002026.6e-28443494
GATApfam003203.9e-17390424
GATApfam003209.6e-20444478
GATA-Npfam053493.5e-104147381
ZnF_GATAsmart004012e-18385435
ZnF_GATAsmart004011.1e-25439488

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067389Diseasep.ALA467THRPancreatic agenesis and congenital heart defects (PACHD)
Swiss-ProtVAR_067381Diseasep.ALA178VALAtrioventricular septal defect 5 (AVSD5)
Swiss-ProtVAR_067385Diseasep.ARG456CYSPancreatic agenesis and congenital heart defects (PACHD)
Swiss-ProtVAR_067386Diseasep.ARG456HISPancreatic agenesis and congenital heart defects (PACHD)
Swiss-ProtVAR_067387Diseasep.ASN466ASPPancreatic agenesis and congenital heart defects (PACHD)
Swiss-ProtVAR_067388Diseasep.ASN466HISConotruncal heart malformations (CTHM)
Swiss-ProtVAR_067380Polymorphismp.GLY15ARGN/A
Swiss-ProtVAR_067383Polymorphismp.LEU198VALN/A
Swiss-ProtVAR_067390Diseasep.LYS473GLNPancreatic agenesis and congenital heart defects (PACHD)
Swiss-ProtVAR_067382Diseasep.SER184ASNTetralogy of Fallot (TOF)
Swiss-ProtVAR_067384Diseasep.THR452ALAPancreatic agenesis and congenital heart defects (PACHD)
OMIM601656.0011 Diseasep.ALA467THRPANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS
OMIM601656.0004 Diseasep.ALA178VALATRIOVENTRICULAR SEPTAL DEFECT 5
OMIM601656.0008 Diseasep.ARG456CYSPANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS
OMIM601656.0009 Diseasep.ARG456HISPANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS
OMIM601656.0010 Diseasep.ASN466ASPPANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS
OMIM601656.0002 Diseasep.ASN466HISPERSISTENT TRUNCUS ARTERIOSUS
OMIM601656.0003 Diseasep.LEU198VALTETRALOGY OF FALLOT
OMIM601656.0005 Diseasep.SER184ASNATRIAL SEPTAL DEFECT 9||TETRALOGY OF FALLOT, INCLUDED
OMIM601656.0006 Diseasep.THR452ALAPANCREATIC AGENESIS AND CONGENITAL CARDIAC DEFECTS



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