Results for the protein: NP

Results for the Protein: NP_001159608

260763994

132884

EVC2

NCBI

limbin isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
ELLIS-VAN CREVELD SYNDROME

6

4

6

4

0

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Default View: EVC2_like - pfam12297	RefSeq Protein: NP_001159608 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs75829835	Polymorphism	p.LEU934VAL	N/A
dbSNP	rs4689278	Polymorphism	p.SER150GLY	N/A
dbSNP	rs60809236	Polymorphism	p.SER928LEU	N/A
dbSNP	rs730469	Polymorphism	p.THR619ALA	N/A
OMIM	607261.0004	Disease	p.ARG319TER	ELLIS-VAN CREVELD SYNDROME
OMIM	607261.0011	Disease	p.ARG804TER	ELLIS-VAN CREVELD SYNDROME
OMIM	607261.0008	Disease	p.ARG790TRP	ELLIS-VAN CREVELD SYNDROME
OMIM	607261.0005	Disease	p.GLN539TER	ELLIS-VAN CREVELD SYNDROME
OMIM	607261.0007	Disease	p.GLN929TER	ELLIS-VAN CREVELD SYNDROME
OMIM	607261.0006	Disease	p.ILE203ARG	ELLIS-VAN CREVELD SYNDROME

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