Results for the protein: Q63HN8

Results for the Protein: Q63HN8

380865458

57674

RNF213

NCBI, UniProt

RN213_HUMAN RecName: Full=E3 ubiquitin-protein ligase RNF213; AltName: Full=ALK lymphoma oligomerization partner on chromosome 17; AltName: Full=Mysterin; AltName: Full=RING finger protein 213

Known Diseases associated with this Protein:
MOYAMOYA DISEASE 2 (MYMY2)

1

15

0

0

16

Tips:

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Default View: RING - cd00162 RING - smart00184 zf-C3HC4 - pfam00097	Swiss-Prot Protein: Q63HN8 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
zf-C3HC4	pfam00097	2.1e-05	3997	4035
RING	smart00184	1.6e-07	3997	4035

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067026	Polymorphism	p.ALA4399THR	N/A
Swiss-Prot	VAR_067033	Polymorphism	p.ALA5021VAL	N/A
Swiss-Prot	VAR_067025	Polymorphism	p.ARG4062GLN	N/A
Swiss-Prot	VAR_067030	Disease	p.ARG4810LYS	Moyamoya disease 2 (MYMY2)
Swiss-Prot	VAR_067023	Polymorphism	p.ASN3962ASP	N/A
Swiss-Prot	VAR_067024	Polymorphism	p.ASP4013ASN	N/A
Swiss-Prot	VAR_067031	Polymorphism	p.ASP4863ASN	N/A
Swiss-Prot	VAR_067020	Polymorphism	p.ASP2554GLU	N/A
Swiss-Prot	VAR_067034	Polymorphism	p.ASP5160GLU	N/A
Swiss-Prot	VAR_067032	Polymorphism	p.GLU4950ASP	N/A
Swiss-Prot	VAR_067022	Polymorphism	p.GLU3915GLY	N/A
Swiss-Prot	VAR_067035	Polymorphism	p.GLU5176GLY	N/A
Swiss-Prot	VAR_067021	Polymorphism	p.MET3891VAL	N/A
Swiss-Prot	VAR_067028	Polymorphism	p.PRO4608SER	N/A
Swiss-Prot	VAR_067027	Polymorphism	p.VAL4567MET	N/A
Swiss-Prot	VAR_067029	Polymorphism	p.VAL4765MET	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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