Results for the protein: NP

Results for the Protein: NP_001163887

282165810

9414

TJP2

NCBI

tight junction protein ZO-2 isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
HYPERCHOLANEMIA, FAMILIAL

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9

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9

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Default View: PDZ - smart00228 SH3 - smart00326 SH3_2 - pfam07653 GuKc - smart00072	RefSeq Protein: NP_001163887 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PDZ	smart00228	2e-14	324	416
PDZ	smart00228	5.3e-17	540	623
SH3	smart00326	0.00019	636	698
SH3_2	pfam07653	1.4e-07	639	697
GuKc	smart00072	2.8e-52	721	910

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs41277901	Polymorphism	p.ARG524LYS	N/A
dbSNP	rs2309428	Polymorphism	p.ASP513GLU	N/A
dbSNP	rs41305539	Polymorphism	p.GLN159LYS	N/A
dbSNP	rs28556975	Polymorphism	p.LEU968PRO	N/A
dbSNP	rs34774441	Polymorphism	p.MET699ILE	N/A
dbSNP	rs116545275	Polymorphism	p.SER744GLY	N/A
dbSNP	rs41277907	Polymorphism	p.SER1041PHE	N/A
dbSNP	rs35797487	Polymorphism	p.SER742PRO	N/A
dbSNP	rs77321498	Polymorphism	p.THR395MET	N/A
OMIM	607709.0001	Disease	p.VAL48ALA	HYPERCHOLANEMIA, FAMILIAL

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