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Results for the Protein: Q15477
313104288

SKIV2_HUMAN RecName: Full=Helicase SKI2W; Short=Ski2; AltName: Full=Helicase-like protein; Short=HLP

Known Diseases associated with this Protein:
  TRICHOHEPATOENTERIC SYNDROME 2
  TRICHOHEPATOENTERIC SYNDROME 2 (THES2)
3
12
2
6
7
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

COG4581 - COG4581
COG1204 - COG1204
DEXDc - smart00487
DEAD - pfam00270
DEXDc - cd00046
HELICc - cd00079
HELICc - smart00490
Helicase_C - pfam00271
DSHCT - pfam08148


Swiss-Prot Protein: Q15477
Identical to: NP_008860
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG1204COG12045.2e-072821042
DEXDccd000462e-16326457
HELICccd000791.5e-19540718
COG4581COG45817.9e-2611291245
DEADpfam002701.2e-29312463
Helicase_Cpfam002714.1e-08625708
DEXDcsmart004873.9e-27303490
HELICcsmart004908.8e-18622708
DSHCTpfam081489e-7710681245

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs449643 Polymorphismp.ALA1071GLUN/A
Swiss-ProtVAR_055891Polymorphismp.ALA1071VALN/A
Swiss-ProtVAR_055888Polymorphismp.ARG324TRPN/A
dbSNPrs3911893 Polymorphismp.ASP887ASNN/A
dbSNPrs438999 Polymorphismp.GLN151ARGN/A
dbSNPrs35985869 Polymorphismp.GLN60ARGN/A
Swiss-ProtVAR_060381Polymorphismp.GLY1153ARGN/A
Swiss-ProtVAR_035944Polymorphismp.LEU183VALN/A
Swiss-ProtVAR_035945Polymorphismp.MET765ILEN/A
dbSNPrs437179 Polymorphismp.MET214LEUN/A
Swiss-ProtVAR_060382Polymorphismp.VAL1238GLYN/A
Swiss-ProtVAR_067721Diseasep.VAL341GLYTrichohepatoenteric syndrome 2 (THES2)
dbSNPrs106287 Polymorphismp.VAL917METN/A
OMIM600478.0001 Diseasep.TRP283TERTRICHOHEPATOENTERIC SYNDROME 2
OMIM600478.0002 Diseasep.VAL341GLYTRICHOHEPATOENTERIC SYNDROME 2



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