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Results for the Protein: Q15468
122070597

STIL_HUMAN RecName: Full=SCL-interrupting locus protein; AltName: Full=TAL-1-interrupting locus protein

Known Diseases associated with this Protein:
  MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE
2
4
2
2
2
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Swiss-Prot Protein: Q15468
Identical to: NP_003026
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_051386Polymorphismp.ALA1145VALN/A
dbSNPrs3125630 Polymorphismp.ALA86VALN/A
dbSNPrs13376679 Polymorphismp.HIS984ARGN/A
Swiss-ProtVAR_029872Polymorphismp.PRO1012ARGN/A
OMIM181590.0001 Diseasep.GLN1238TERMICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE
OMIM181590.0004 Diseasep.LEU798TRPMICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE



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