Results for the protein: NP

Results for the Protein: NP_569712

110611233

80781

COL18A1

NCBI

collagen alpha-1(XVIII) chain isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
KNOBLOCH SYNDROME 1

1

6

1

6

0

Tips:

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Default View: TSPN - smart00210 LamG - cd00110 Collagen - pfam01391 Endostatin - pfam06482 Endostatin-like - cd00247	RefSeq Protein: NP_569712 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Endostatin-like	cd00247	2.9e-128	1160	1330
Collagen	pfam01391	2.6e-09	337	407
Collagen	pfam01391	5.1e-10	408	460
Collagen	pfam01391	5.2e-10	485	546
Collagen	pfam01391	1.6e-12	547	606
Collagen	pfam01391	2e-12	633	692
Collagen	pfam01391	3.1e-10	698	771
Collagen	pfam01391	1.7e-10	774	829
Collagen	pfam01391	1e-09	834	897
Collagen	pfam01391	1.8e-08	908	959
Collagen	pfam01391	2.3e-08	961	1024
TSPN	smart00210	1.2e-57	41	229
Endostatin	pfam06482	4.5e-216	1022	1336

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs76658745	Polymorphism	p.ARG81TRP	N/A
dbSNP	rs12483377	Polymorphism	p.ASP1257ASN	N/A
dbSNP	rs2230693	Polymorphism	p.GLN780HIS	N/A
dbSNP	rs76547444	Polymorphism	p.GLY337SER	N/A
dbSNP	rs79980197	Polymorphism	p.PRO706ARG	N/A
dbSNP	rs62000962	Polymorphism	p.VAL661ILE	N/A
OMIM	120328.0004	Disease	p.ASP1257ASN	KNOBLOCH SYNDROME 1

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