Results for the protein: Q13415

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BAH_Orc1p_animal	cd04719	5.1e-77	44	170
CDC6	COG1474	6.5e-36	485	861
AAA	cd00009	4.9e-08	505	680
Cdc6_C	cd08768	2.7e-19	771	854
BAH	pfam01426	2.5e-29	45	169
AAA	pfam00004	1.9e-19	530	675
BAH	smart00439	1.5e-31	46	169
AAA	smart00382	2e-09	526	677
Cdc6_C	pfam09079	2.7e-17	778	858

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_014510	Polymorphism	p.ALA372VAL	N/A
Swiss-Prot	VAR_065482	Disease	p.ARG105GLN	Meier-Gorlin syndrome 1 (MGORS1)
Swiss-Prot	VAR_065485	Disease	p.ARG720GLN	Meier-Gorlin syndrome 1 (MGORS1)
Swiss-Prot	VAR_014511	Polymorphism	p.ARG441MET	N/A
Swiss-Prot	VAR_014507	Polymorphism	p.ARG19SER	N/A
Swiss-Prot	VAR_065484	Disease	p.ARG666TRP	Meier-Gorlin syndrome 1 (MGORS1)
Swiss-Prot	VAR_014514	Polymorphism	p.CYS469TYR	N/A
dbSNP	rs3087482	Polymorphism	p.GLN180HIS	N/A
Swiss-Prot	VAR_065483	Disease	p.GLU127GLY	Meier-Gorlin syndrome 1 (MGORS1)
Swiss-Prot	VAR_014512	Polymorphism	p.LYS456GLU	N/A
dbSNP	rs34521609	Polymorphism	p.MET816THR	N/A
Swiss-Prot	VAR_065481	Disease	p.PHE89SER	Meier-Gorlin syndrome 1 (MGORS1)
dbSNP	rs3087481	Polymorphism	p.THR466MET	N/A
dbSNP	rs3087477	Polymorphism	p.VAL190MET	N/A
OMIM	601902.0003	Disease	p.ARG105GLN	MEIER-GORLIN SYNDROME 1
OMIM	601902.0004	Disease	p.ARG720GLN	MEIER-GORLIN SYNDROME 1
OMIM	601902.0007	Disease	p.ARG666TRP	MEIER-GORLIN SYNDROME 1
OMIM	601902.0001	Disease	p.GLU127GLY	MEIER-GORLIN SYNDROME 1
OMIM	601902.0002	Disease	p.PHE89SER	MEIER-GORLIN SYNDROME 1

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