Results for the protein: Q9H211

Results for the Protein: Q9H211

308153620

81620

CDT1

NCBI, UniProt

CDT1_HUMAN RecName: Full=DNA replication factor Cdt1; AltName: Full=Double parked homolog; Short=DUP

Known Diseases associated with this Protein:
MEIER-GORLIN SYNDROME 4
MEIER-GORLIN SYNDROME 4 (MGORS4)

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4

2

9

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Default View: Cdt1_m - cd08674 CDT1 - pfam08839 Cdt1_c - cd08767	Swiss-Prot Protein: Q9H211 Identical to: NP_112190 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Cdt1_c	cd08767	4.5e-66	412	537
CDT1	pfam08839	5.4e-94	186	350

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065488	Disease	p.ALA66THR	Meier-Gorlin syndrome 4 (MGORS4)
Swiss-Prot	VAR_029163	Polymorphism	p.ALA135VAL	N/A
dbSNP	rs3218721	Polymorphism	p.ALA537VAL	N/A
Swiss-Prot	VAR_029164	Polymorphism	p.ARG172CYS	N/A
Swiss-Prot	VAR_065491	Disease	p.ARG462GLN	Meier-Gorlin syndrome 4 (MGORS4)
Swiss-Prot	VAR_065490	Disease	p.ARG453TRP	Meier-Gorlin syndrome 4 (MGORS4)
Swiss-Prot	VAR_054504	Polymorphism	p.CYS234ARG	N/A
Swiss-Prot	VAR_065489	Disease	p.GLN117HIS	Meier-Gorlin syndrome 4 (MGORS4)
Swiss-Prot	VAR_029165	Polymorphism	p.GLU456ALA	N/A
Swiss-Prot	VAR_065492	Disease	p.GLU468LYS	Meier-Gorlin syndrome 4 (MGORS4)
dbSNP	rs480727	Polymorphism	p.THR262ALA	N/A
OMIM	605525.0004	Disease	p.ALA66THR	MEIER-GORLIN SYNDROME 4
OMIM	605525.0001	Disease	p.ARG462GLN	MEIER-GORLIN SYNDROME 4
OMIM	605525.0005	Disease	p.GLU468LYS	MEIER-GORLIN SYNDROME 4
OMIM	605525.0002	Disease	p.TYR520TER	MEIER-GORLIN SYNDROME 4

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