TRPV1

Chr 17

transient receptor potential cation channel subfamily V member 1

Also known as: VR1

NCBI Gene: 7442ENSG00000196689UniProt: Q8NER1

Capsaicin, the main pungent ingredient in hot chili peppers, elicits a sensation of burning pain by selectively activating sensory neurons that convey information about noxious stimuli to the central nervous system. The protein encoded by this gene is a receptor for capsaicin and is a non-selective cation channel that is structurally related to members of the TRP family of ion channels. This receptor is also activated by increases in temperature in the noxious range, suggesting that it functions as a transducer of painful thermal stimuli in vivo. Four transcript variants encoding the same protein, but with different 5' UTR sequence, have been described for this gene. [provided by RefSeq, Jul 2008]

260
ClinVar variants
67
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— TRPV1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
67 Pathogenic / Likely Pathogenic· 163 VUS of 260 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.08LOEUF
pLI 0.000
Z-score 1.14
OE 0.80 (0.59–1.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.47Z-score
OE missense 0.94 (0.87–1.02)
475 obs / 504.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.80 (0.59–1.08)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.94 (0.87–1.02)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.12
0≤1.21.6
LoF obs/exp: 29 / 36.5Missense obs/exp: 475 / 504.5Syn Z: -1.43

ClinVar Variant Classifications

260 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic65
Likely Pathogenic2
VUS163
Likely Benign20
Benign8
Conflicting2
65
Pathogenic
2
Likely Pathogenic
163
VUS
20
Likely Benign
8
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
65
0
65
Likely Pathogenic
0
1
1
0
2
VUS
0
131
32
0
163
Likely Benign
0
9
5
6
20
Benign
0
2
3
3
8
Conflicting
—2
Total01431069260

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

View in ClinVar →

Protein Context — Lollipop Plot

TRPV1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
📖
GeneReview available — TRPV1
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Medicinal Chemistry, Pharmacology, and Clinical Implications of TRPV1 Receptor Antagonists.
Aghazadeh Tabrizi M et al.·Med Res Rev
2017Review
Mechanisms and clinical uses of capsaicin.
Sharma SK et al.·Eur J Pharmacol
2013Review
The Basal Pharmacology of Palmitoylethanolamide.
Rankin L et al.·Int J Mol Sci
2020Review
TRPV1-Targeted Drugs in Development for Human Pain Conditions.
Iftinca M et al.·Drugs
2021Review
Sleep deficiency exacerbates periodontal inflammation via trigeminal TRPV1 neurons.
Li J et al.·Proc Natl Acad Sci U S A
2025
Insight into Pain Modulation: Nociceptors Sensitization and Therapeutic Targets.
Khan A et al.·Curr Drug Targets
2019Review
TRPV1 and TRPA1 in cutaneous neurogenic and chronic inflammation: pro-inflammatory response induced by their activation and their sensitization.
Gouin O et al.·Protein Cell
2017Review
TRPV1.
Bevan S et al.·Handb Exp Pharmacol
2014Review
Nonsurgical mouse model of endometriosis-associated pain that responds to clinically active drugs.
Fattori V et al.·Pain
2020Functional
Targeting TRP channels for pain relief: A review of current evidence from bench to bedside.
Koivisto AP et al.·Curr Opin Pharmacol
2024Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Non-Allergic Rhinitis With Eosinophilia Syndrome

Efficacy and Safety of Stapokibart in Non-Allergic Rhinitis With Eosinophilia Syndrome

NOT YET RECRUITING
NCT07240376Phase NAHuazhong University of Science and TechnologyStarted 2025-11-25
Stapokibart (CM310)Placebo

External Resources

Links to major genomics databases and tools