Results for the protein: Q9NXB0

Results for the Protein: Q9NXB0

92087008

54903

MKS1

NCBI, UniProt

MKS1_HUMAN RecName: Full=Meckel syndrome type 1 protein

Known Diseases associated with this Protein:
BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 (BBS13)

2

5

1

0

6

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Default View: B9-C2 - pfam07162	Swiss-Prot Protein: Q9NXB0 Identical to: NP_060247 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_062287	Polymorphism	p.ARG123GLN	N/A
Swiss-Prot	VAR_062288	Polymorphism	p.ARG166TRP	N/A
Swiss-Prot	VAR_062289	Polymorphism	p.ASP286GLY	N/A
Swiss-Prot	VAR_062292	Disease	p.CYS492TRP	Bardet-Biedl syndrome 13 (BBS13)
Swiss-Prot	VAR_062291	Polymorphism	p.ILE450THR	N/A
Swiss-Prot	VAR_060161	Polymorphism	p.LEU39PHE	N/A
OMIM	609883.0006	Disease	p.CYS492TRP	BARDET-BIEDL SYNDROME 13

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