Results for the protein: Q9NTQ9

Results for the Protein: Q9NTQ9

12229761

127534

GJB4

NCBI, UniProt

CXB4_HUMAN RecName: Full=Gap junction beta-4 protein; AltName: Full=Connexin-30.3; Short=Cx30.3

Known Diseases associated with this Protein:
ERYTHROKERATODERMIA VARIABILIS (EKV)
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA

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Default View: Connexin - pfam00029 CNX - smart00037 Connexin_CCC - pfam10582	Swiss-Prot Protein: Q9NTQ9 Identical to: NP_694944 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CNX	smart00037	7.7e-21	42	75
Connexin_CCC	pfam10582	8e-42	141	208

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs9426009	Polymorphism	p.ARG103CYS	N/A
Swiss-Prot	VAR_015090	Polymorphism	p.ARG160CYS	N/A
Swiss-Prot	VAR_015089	Polymorphism	p.ARG124GLN	N/A
dbSNP	rs78499418	Polymorphism	p.ARG151SER	N/A
dbSNP	rs79193415	Polymorphism	p.CYS169TRP	N/A
Swiss-Prot	VAR_015092	Polymorphism	p.GLU204ALA	N/A
Swiss-Prot	VAR_010206	Disease	p.PHE137LEU	Erythrokeratodermia variabilis (EKV)
OMIM	605425.0005	Disease	p.ARG22HIS	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA
OMIM	605425.0004	Disease	p.GLY12ASP	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA
OMIM	605425.0006	Disease	p.PHE189TYR	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA
OMIM	605425.0003	Disease	p.THR85PRO	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA

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