Results for the protein: Q15475

Results for the Protein: Q15475

2495290

6495

SIX1

NCBI, UniProt

SIX1_HUMAN RecName: Full=Homeobox protein SIX1; AltName: Full=Sine oculis homeobox homolog 1

Known Diseases associated with this Protein:
BRANCHIOOTIC SYNDROME 3
BRANCHIOOTIC SYNDROME 3 (BOS3)

11

2

3

0

10

Tips:

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Default View: HOX - smart00389	Swiss-Prot Protein: Q15475 Identical to: NP_005973 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_064952	Disease	p.ARG112CYS	Branchiootic syndrome 3 (BOS3)
Swiss-Prot	VAR_067446	Polymorphism	p.ARG99CYS	N/A
Swiss-Prot	VAR_064951	Disease	p.ARG110GLN	Branchiootic syndrome 3 (BOS3)
Swiss-Prot	VAR_031024	Disease	p.ARG110TRP	Branchiootic syndrome 3 (BOS3)
Swiss-Prot	VAR_064949	Disease	p.HIS73PRO	Branchiootic syndrome 3 (BOS3)
Swiss-Prot	VAR_064954	Polymorphism	p.PRO249LEU	N/A
Swiss-Prot	VAR_064953	Disease	p.TRP122ARG	Branchiootic syndrome 3 (BOS3)
Swiss-Prot	VAR_031025	Disease	p.TYR129CYS	Branchiootic syndrome 3 (BOS3)
Swiss-Prot	VAR_064948	Disease	p.VAL17GLU	Branchiootic syndrome 3 (BOS3)
Swiss-Prot	VAR_064950	Disease	p.VAL106GLY	Branchiootic syndrome 3 (BOS3)
OMIM	601205.0002	Disease	p.ARG110TRP	BRANCHIOOTIC SYNDROME 3
OMIM	601205.0004	Disease	p.TRP122ARG	BRANCHIOOTIC SYNDROME 3
OMIM	601205.0001	Disease	p.TYR129CYS	BRANCHIOOTIC SYNDROME 3

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