Results for the protein: P33076

Results for the Protein: P33076

317373472

4261

CIITA

NCBI, UniProt

C2TA_HUMAN RecName: Full=MHC class II transactivator; Short=CIITA

Known Diseases associated with this Protein:
BARE LYMPHOCYTE SYNDROME 2 (BLS2)

2

7

0

0

9

Tips:

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Default View: NACHT - pfam05729 LRR_RI - cd00116 LRR_RI - smart00368	Swiss-Prot Protein: P33076 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NACHT	pfam05729	1.5e-72	414	585
LRR_RI	smart00368	1.8e-07	1014	1041
LRR_RI	smart00368	9.8e-06	1043	1070
LRR_RI	smart00368	4.1e-06	1071	1098

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_015552	Polymorphism	p.ALA658GLY	N/A
Swiss-Prot	VAR_047907	Polymorphism	p.ARG174GLY	N/A
Swiss-Prot	VAR_047908	Polymorphism	p.GLN900ARG	N/A
Swiss-Prot	VAR_005128	Polymorphism	p.GLY500ALA	N/A
Swiss-Prot	VAR_015551	Disease	p.LEU469PRO	Bare lymphocyte syndrome 2 (BLS2)
Swiss-Prot	VAR_029270	Polymorphism	p.LEU45VAL	N/A
Swiss-Prot	VAR_015553	Disease	p.PHE962SER	Bare lymphocyte syndrome 2 (BLS2)
Swiss-Prot	VAR_060104	Polymorphism	p.SER781LEU	N/A
Swiss-Prot	VAR_057711	Polymorphism	p.VAL782ALA	N/A

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