Results for the protein: Q14500

Results for the Protein: Q14500

77416868

3768

KCNJ12

NCBI, UniProt

IRK12_HUMAN RecName: Full=ATP-sensitive inward rectifier potassium channel 12; AltName: Full=Inward rectifier K(+) channel Kir2.2; Short=IRK-2; AltName: Full=Inward rectifier K(+) channel Kir2.2v; AltName: Full=Potassium channel, inwardly rectifying subfamily J member 12

			0 16 0 12 4

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Default View: IRK_N - pfam08466 IRK - pfam01007	Swiss-Prot Protein: Q14500 Identical to: NP_066292 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IRK_N	pfam08466	9.2e-25	2	46

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_059366	Polymorphism	p.ARG118GLN	N/A
dbSNP	rs3752033	Polymorphism	p.ARG39GLN	N/A
dbSNP	rs3752032	Polymorphism	p.ARG6GLN	N/A
dbSNP	rs77270326	Polymorphism	p.ARG261HIS	N/A
dbSNP	rs3752034	Polymorphism	p.ARG40HIS	N/A
dbSNP	rs1657742	Polymorphism	p.GLN192HIS	N/A
dbSNP	rs1714865	Polymorphism	p.GLU56ALA	N/A
dbSNP	rs78113532	Polymorphism	p.GLU289GLN	N/A
Swiss-Prot	VAR_059368	Polymorphism	p.GLU430GLY	N/A
Swiss-Prot	VAR_059365	Polymorphism	p.ILE100VAL	N/A
dbSNP	rs4985866	Polymorphism	p.ILE249VAL	N/A
Swiss-Prot	VAR_049672	Polymorphism	p.PRO156LEU	N/A
dbSNP	rs1612176	Polymorphism	p.SER371ARG	N/A
dbSNP	rs1657738	Polymorphism	p.SER15LEU	N/A
dbSNP	rs80335301	Polymorphism	p.VAL297ILE	N/A
dbSNP	rs74880280	Polymorphism	p.VAL36LEU	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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