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Results for the Protein: NP_056258
32698714

KAT8 regulatory NSL complex subunit 1 isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  KOOLEN-DE VRIES SYNDROME
2
9
2
9
0
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RefSeq Protein: NP_056258
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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 ↕
dbSNPrs1881193 Polymorphismp.ARG247SERN/A
dbSNPrs35643216 Polymorphismp.ASN225TYRN/A
dbSNPrs34579536 Polymorphismp.ILE1085SERN/A
dbSNPrs34101027 Polymorphismp.LEU703PHEN/A
dbSNPrs17585974 Polymorphismp.LYS104METN/A
dbSNPrs17574604 Polymorphismp.PHE860LEUN/A
dbSNPrs7220988 Polymorphismp.PRO1010LEUN/A
dbSNPrs34043286 Polymorphismp.SER718ALAN/A
dbSNPrs17662853 Polymorphismp.THR221ILEN/A
OMIM612452.0001 Diseasep.ARG606TERKOOLEN-DE VRIES SYNDROME
OMIM612452.0003 Diseasep.GLN306TERKOOLEN-DE VRIES SYNDROME



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