AVPR1A

Chr 12

arginine vasopressin receptor 1A

Also known as: AVPR V1a, AVPR1, V1aR

The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
autism spectrum disorder · UDDisputedevidence questions this relationship
0
Active trials
36
Pubs (1 yr)
P/LP submissions
P/LP missense
1.29
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.29LOEUF
pLI 0.000
Z-score 0.76
OE 0.78 (0.491.29)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.01Z-score
OE missense 1.00 (0.901.11)
242 obs / 241.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.78 (0.491.29)
00.351.4
Missense OE?1.00 (0.901.11)
00.61.4
Synonymous OE?1.08
01.21.6
LoF obs/exp: 11 / 14.1Missense obs/exp: 242 / 241.4Syn Z: -0.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

AVPR1A · 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 →