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Results for the Protein: Q96RL7
71152975

VP13A_HUMAN RecName: Full=Vacuolar protein sorting-associated protein 13A; AltName: Full=Chorea-acanthocytosis protein; AltName: Full=Chorein

Known Diseases associated with this Protein:
  CHOREOACANTHOCYTOSIS
  CHOREOACANTHOCYTOSIS (CHAC)
8
8
3
1
12
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Default View:

MRS6 - COG5043
DUF1162 - pfam06650


Swiss-Prot Protein: Q96RL7
Identical to: NP_150648
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DUF1162pfam066501.2e-8322072456

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058116Diseasep.ALA1095PROChoreoacanthocytosis (CHAC)
Swiss-ProtVAR_036324Polymorphismp.ARG161HISN/A
dbSNPrs76077278 Polymorphismp.ARG1490LYSN/A
Swiss-ProtVAR_038420Diseasep.ILE90LYSChoreoacanthocytosis (CHAC)
Swiss-ProtVAR_058121Polymorphismp.ILE2486THRN/A
Swiss-ProtVAR_058114Polymorphismp.PHE565LEUN/A
Swiss-ProtVAR_058122Polymorphismp.PRO3172LEUN/A
Swiss-ProtVAR_012803Diseasep.SER1452PROChoreoacanthocytosis (CHAC)
Swiss-ProtVAR_058120Diseasep.TRP2460ARGChoreoacanthocytosis (CHAC)
Swiss-ProtVAR_058118Polymorphismp.TYR1587CYSN/A
Swiss-ProtVAR_038421Diseasep.TYR2721CYSChoreoacanthocytosis (CHAC)
Swiss-ProtVAR_058115Polymorphismp.VAL898ALAN/A
Swiss-ProtVAR_058119Polymorphismp.VAL1973ILEN/A
OMIM605978.0004 Diseasep.ARG208TERCHOREOACANTHOCYTOSIS
OMIM605978.0001 Diseasep.ILE90LYSCHOREOACANTHOCYTOSIS
OMIM605978.0010 Diseasep.TRP435TERCHOREOACANTHOCYTOSIS



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