Results for the protein: Q9HCE0

Results for the Protein: Q9HCE0

158705892

57724

EPG5

NCBI, UniProt

EPG5_HUMAN RecName: Full=Ectopic P granules protein 5 homolog

Known Diseases associated with this Protein:
  VICI SYDROME
  VICI SYNDROME
  VICI SYNDROME (VICIS)

5

16

4

13

4

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Default View:	Swiss-Prot Protein: Q9HCE0 Identical to: NP_066015 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_036525	Polymorphism	p.ALA1511THR	N/A
dbSNP	rs1893523	Polymorphism	p.ALA1511VAL	N/A
dbSNP	rs186784974	Polymorphism	p.ARG1501GLN	N/A
dbSNP	rs34674177	Polymorphism	p.ARG1985GLN	N/A
Swiss-Prot	VAR_036527	Polymorphism	p.ARG2056TRP	N/A
dbSNP	rs144860976	Polymorphism	p.ASN1347HIS	N/A
Swiss-Prot	VAR_036526	Polymorphism	p.CYS1865TYR	N/A
Swiss-Prot	VAR_069224	Disease	p.GLN336ARG	Vici syndrome (VICIS)
dbSNP	rs61734402	Polymorphism	p.GLN589ARG	N/A
dbSNP	rs3744999	Polymorphism	p.GLU844ASP	N/A
dbSNP	rs3744997	Polymorphism	p.ILE1131VAL	N/A
dbSNP	rs59422275	Polymorphism	p.LYS182GLU	N/A
dbSNP	rs34064739	Polymorphism	p.SER1864ASN	N/A
dbSNP	rs117817123	Polymorphism	p.SER424ASN	N/A
dbSNP	rs78339727	Polymorphism	p.SER1083LEU	N/A
dbSNP	rs180913079	Polymorphism	p.SER267LEU	N/A
dbSNP	rs3744998	Polymorphism	p.VAL1058ALA	N/A
OMIM	615068.0003	Disease	p.ARG1161TER	VICI SYDROME
OMIM	615068.0005	Disease	p.ARG2078TER	VICI SYNDROME
OMIM	615068.0001	Disease	p.GLN1530TER	VICI SYNDROME
OMIM	615068.0004	Disease	p.GLU859TER	VICI SYNDROME

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