SMIM45

Chr 22

small integral membrane protein 45

Also known as: BK250D10.8, LINC00634

NCBI Gene: 339674ENSG00000205704UniProt: A0A590UK83

Involved in neuron maturation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

15
ClinVar variants
6
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— SMIM45
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 7 VUS of 15 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

15 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
VUS7
6
Pathogenic
7
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
6
0
6
Likely Pathogenic
0
0
0
0
0
VUS
0
4
3
0
7
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total049013

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SMIM45 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools