Results for the protein: NP

Results for the Protein: NP_001129501

209862859

9681

DEPDC5

NCBI

DEP domain-containing protein 5 isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI

5

3

5

3

0

Tips:

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Default View: DUF3608 - pfam12257 DEP_DEPDC5-like - cd04449 DEP - cd04371 DEP - smart00049 DEP - pfam00610	RefSeq Protein: NP_001129501 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DEP	cd04371	5.3e-16	1170	1250
DEP	pfam00610	2.3e-15	1181	1251
DUF3608	pfam12257	3.4e-55	100	382
DEP	smart00049	1.6e-19	1178	1253

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs16989528	Polymorphism	p.ALA641VAL	N/A
dbSNP	rs16989535	Polymorphism	p.ARG712ILE	N/A
dbSNP	rs8138516	Polymorphism	p.LYS491THR	N/A
OMIM	614191.0006	Disease	p.ARG239TER	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI
OMIM	614191.0007	Disease	p.ARG328TER	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI
OMIM	614191.0002	Disease	p.ARG555TER	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI
OMIM	614191.0004	Disease	p.TRP1360TER	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI
OMIM	614191.0001	Disease	p.TYR7TER	EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI

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