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SCAR21

Chr 11AR

SCY1 like pseudokinase 1

Also known as: GKLP, HT019, NKTL, NTKL, P105, SCAR21, TAPK, TEIF

This gene encodes a transcriptional regulator with a catalytically inactive kinase domain that activates transcription of telomerase reverse transcriptase and DNA polymerase beta genes through specific DNA binding. Mutations cause spinocerebellar ataxia, autosomal recessive 21, a progressive cerebellar disorder. Inheritance is autosomal recessive.

OMIMResearchSummary from RefSeq, OMIM
AR1 OMIM phenotype
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SCAR21?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SCAR21 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found