MFSD14C

Chr 9

solute carrier family 71 member 3, pseudogene

Also known as: HIATL2, MFSD14C, MFSD14CP

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
16
Pathogenic / LP
17
ClinVar variants
0
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummaryMFSD14C
📋
ClinVar Variants
16 Pathogenic / Likely Pathogenic 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/MFSD14C?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

Pathogenic16
Likely Benign1
16
Pathogenic
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
16
Likely Pathogenic
0
VUS
0
Likely Benign
1
Benign
0
Total17

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MFSD14C · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found