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Results for the Protein: Q96S42
166214958

NODAL_HUMAN RecName: Full=Nodal homolog; Flags: Precursor

Known Diseases associated with this Protein:
  HETEROTAXY, VISCERAL, 5, AUTOSOMAL
  HETEROTAXY, VISCERAL, 5, AUTOSOMAL (HTX5)
7
2
2
1
6
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Default View:

TGF_beta - pfam00019
TGFB - smart00204


Swiss-Prot Protein: Q96S42
Identical to: NP_060525
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TGF_betapfam000192.5e-35244347
TGFBsmart002045.9e-59247347

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_062282Diseasep.ARG275CYSHeterotaxy, visceral, 5, autosomal (HTX5)
Swiss-ProtVAR_015111Diseasep.ARG183GLNHeterotaxy, visceral, 5, autosomal (HTX5)
Swiss-ProtVAR_038194Diseasep.GLU203LYSHeterotaxy, visceral, 5, autosomal (HTX5)
Swiss-ProtVAR_036202Polymorphismp.GLU279LYSN/A
Swiss-ProtVAR_062281Diseasep.GLY260ARGHeterotaxy, visceral, 5, autosomal (HTX5)
dbSNPrs1904589 Polymorphismp.HIS165ARGN/A
Swiss-ProtVAR_062283Diseasep.VAL284PHEHeterotaxy, visceral, 5, autosomal (HTX5)
OMIM601265.0001 Diseasep.ARG183GLNHETEROTAXY, VISCERAL, 5, AUTOSOMAL
OMIM601265.0002 Diseasep.GLY260ARGHETEROTAXY, VISCERAL, 5, AUTOSOMAL



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