SFT2D1

Chr 6

SFT2 domain containing 1

Also known as: C6orf83, pRGR1

NCBI Gene: 113402ENSG00000198818UniProt: Q8WV19

Predicted to be involved in protein transport and vesicle-mediated transport. Predicted to be located in several cellular components, including cytoplasm; endomembrane system; and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.06
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.06LOEUF
pLI 0.002
Z-score 1.42
OE 0.54 (0.29–1.06)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.31Z-score
OE missense 0.90 (0.74–1.10)
72 obs / 79.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.29–1.06)
0≤0.351.4
Missense OE?0.90 (0.74–1.10)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 6 / 11.1Missense obs/exp: 72 / 79.9Syn Z: -0.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SFT2D1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients