RecName: Full=Transcriptional regulator QRICH1; AltName: Full=Glutamin - Protein

Run BLAST
Find regions of similarity between this sequence and other sequences using BLAST.
Identify Conserved Domains
View conserved domains detected in this protein sequence using CD-search.

A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay. [Mol Genet Genomic Med. 2023]
A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay.
Wang D, Wu J. Mol Genet Genomic Med. 2023 Aug; 11(8):e2227. Epub 2023 Jun 18.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. [Hum Mutat. 2022]
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, et al. Hum Mutat. 2022 Feb; 43(2):266-282. Epub 2021 Dec 11.
A case of Ververi-Brady syndrome due to QRICH1 loss of function and the literature review. [Am J Med Genet A. 2021]
A case of Ververi-Brady syndrome due to QRICH1 loss of function and the literature review.
Baruch Y, Horn-Saban S, Plotsky Y, Bercovich D, Gershoni-Baruch R. Am J Med Genet A. 2021 Jun; 185(6):1913-1917. Epub 2021 Mar 18.

PubMed
PubMed articles cited by protein sequence record
Taxonomy
Taxonomy sequences associated with protein record
BioSystems
BioSystems
CDD Search Results
Display conserved domains within a protein
Conserved Domains (Concise)
Link to a concise list of conserved domains in a protein
Conserved Domains (Full)
Link to conserved domains within a protein
Domain Relatives
Display proteins with similar conserved domain architecture
Full text in PMC
Free full text articles in PMC
Gene
Link to related Genes
OMIM
OMIM records associated with protein sequence
Protein (RefSeq)
Protein gi (UniProtKB) to protein gi (refseq)
PubMed (Weighted)
Links to pubmed
Related Structures (List)
List of related structures

Q2TAL8 [Domain Mapping of Disease Mut...]
Q2TAL8
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

Your browsing activity is empty.

Activity recording is turned off.

Protein