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Results for the Protein: Q9HCK8
317373586

CHD8_HUMAN RecName: Full=Chromodomain-helicase-DNA-binding protein 8; Short=CHD-8; AltName: Full=ATP-dependent helicase CHD8; AltName: Full=Helicase with SNF2 domain 1

Known Diseases associated with this Protein:
  AUTISM, SUSCEPTIBILITY TO, 18
3
1
3
1
0
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Default View:

HepA - COG0553
CHROMO - cd00024
CHROMO - smart00298
Chromo - pfam00385
DEXDc - smart00487
SNF2_N - pfam00176
DEXDc - cd00046
HELICc - cd00079
HELICc - smart00490
Helicase_C - pfam00271
BRK - pfam07533
BRK - smart00592


Swiss-Prot Protein: Q9HCK8
Identical to: NP_001164100
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HepACOG05532e-1444481310
CHROMOcd000241.9e-13639704
CHROMOcd000246.4e-09721778
DEXDccd000461.3e-17830979
HELICccd000794.8e-2611221255
Chromopfam003853e-10642704
Chromopfam003852.3e-14724778
SNF2_Npfam001762.4e-1008141099
Helicase_Cpfam002713.1e-2411671247
CHROMOsmart002985.2e-10640706
CHROMOsmart002980.00011722780
DEXDcsmart004877e-368031009
HELICcsmart004904.1e-2411631247
BRKpfam075331.3e-2123082352
BRKsmart005921.7e-2123102354
BRKsmart005923.3e-1123792419

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs10467770 Polymorphismp.VAL58METN/A
OMIM610528.0005 Diseasep.ARG1337TERAUTISM, SUSCEPTIBILITY TO, 18
OMIM610528.0004 Diseasep.GLN1238TERAUTISM, SUSCEPTIBILITY TO, 18
OMIM610528.0001 Diseasep.SER62TERAUTISM, SUSCEPTIBILITY TO, 18



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