SLC38A12

Chr 17

solute carrier family 38 member 12

Also known as: TMEM104

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
17
ClinVar variants
7
Pathogenic / LP
Missense Z
LOEUF
0
Pubs (2 yr)
Clinical SummarySLC38A12
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 8 VUS of 17 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SLC38A12?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

17 submitted variants in ClinVar

Classification Summary

Pathogenic7
VUS8
Likely Benign2
7
Pathogenic
8
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
7
0
7
Likely Pathogenic
0
0
0
0
0
VUS
0
8
0
0
8
Likely Benign
0
1
0
1
2
Benign
0
0
0
0
0
Total097117

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

View in ClinVar →

Protein Context — Lollipop Plot

SLC38A12 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →