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C2ORF83

Chr 2

solute carrier family 19 member 4, pseudogene

Also known as: C2orf83

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

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.96
LOEUF
Mechanism
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/C2ORF83?content-type=application/json

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.96LOEUF
pLI 0.000
Z-score -1.87
OE 2.23 (0.941.96)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.54Z-score
OE missense 0.83 (0.681.02)
68 obs / 81.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?2.23 (0.941.96)
00.351.4
Missense OE?0.83 (0.681.02)
00.61.4
Synonymous OE?1.10
01.21.6
LoF obs/exp: 6 / 2.7Missense obs/exp: 68 / 81.8Syn Z: -0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

C2ORF83 · 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.

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