Results for the protein: Q9H3R0

Results for the Protein: Q9H3R0

97536525

23081

KDM4C

NCBI, UniProt

KDM4C_HUMAN RecName: Full=Lysine-specific demethylase 4C; AltName: Full=Gene amplified in squamous cell carcinoma 1 protein; Short=GASC-1 protein; AltName: Full=JmjC domain-containing histone demethylation protein 3C; AltName: Full=Jumonji domain-containing protein 2C

			0 7 0 5 2

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Default View: JmjN - smart00545 JmjN - pfam02375 JmjC - smart00558 JmjC - pfam02373 PHD - smart00249 TUDOR - smart00333	Swiss-Prot Protein: Q9H3R0 Identical to: NP_055876 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
JmjC	pfam02373	5.6e-67	177	293
JmjN	smart00545	3.6e-15	15	57
JmjC	smart00558	7.3e-20	148	207
PHD	smart00249	4.9e-09	689	746
PHD	smart00249	1.4e-06	809	864
TUDOR	smart00333	1.5e-10	877	933
TUDOR	smart00333	6.5e-09	935	990

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35389625	Polymorphism	p.ASN697SER	N/A
dbSNP	rs2296067	Polymorphism	p.ASP396ASN	N/A
dbSNP	rs1407856	Polymorphism	p.GLN767GLU	N/A
Swiss-Prot	VAR_049660	Polymorphism	p.GLU206ASP	N/A
dbSNP	rs1417290	Polymorphism	p.LYS772ARG	N/A
dbSNP	rs35826653	Polymorphism	p.SER492THR	N/A
Swiss-Prot	VAR_024682	Polymorphism	p.VAL1039ILE	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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