Results for the protein: Q68DV7

Results for the Protein: Q68DV7

74757361

54894

RNF43

NCBI, UniProt

RNF43_HUMAN RecName: Full=E3 ubiquitin-protein ligase RNF43; AltName: Full=RING finger protein 43; Flags: Precursor

			0 7 0 7 0

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Default View: RING - cd00162 RING - smart00184 zf-C3HC4 - pfam00097	Swiss-Prot Protein: Q68DV7 Identical to: NP_060233 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
zf-C3HC4	pfam00097	1.3e-07	272	312
RING	smart00184	4.3e-13	272	312

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2285990	Polymorphism	p.ARG221GLN	N/A
dbSNP	rs2257205	Polymorphism	p.ARG117HIS	N/A
dbSNP	rs34523089	Polymorphism	p.ARG343HIS	N/A
dbSNP	rs3744093	Polymorphism	p.ILE47VAL	N/A
dbSNP	rs2526374	Polymorphism	p.LEU418MET	N/A
dbSNP	rs9652855	Polymorphism	p.PRO686ARG	N/A
dbSNP	rs2680701	Polymorphism	p.PRO231LEU	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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