AVP
arginine vasopressin
Summary
This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the neuropeptide hormone arginine vasopressin, and two other peptides, neurophysin 2 and copeptin. Arginine vasopressin is a posterior pituitary hormone that is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). This gene is present in a gene cluster with the related gene oxytocin on chromosome 20. [provided by RefSeq, Nov 2015]
Known Variants70 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1887854 | 20:3,063,161 | T/C | — | benign |
| rs760345436 | 20:3,063,296 | C/T | — | conflicting classifications of pathogenicity |
| rs1311838880 | 20:3,063,297 | G/A | — | likely benign |
| rs1382053756 | 20:3,063,304 | A/C | — | uncertain significance |
| rs2517099294 | 20:3,063,313 | G/A | — | uncertain significance |
| rs1384062604 | 20:3,063,314 | G/A | — | uncertain significance |
| rs936650522 | 20:3,063,337 | C/G | — | uncertain significance |
| rs1044716891 | 20:3,063,338 | G/T | — | likely benign |
| rs566930108 | 20:3,063,349 | G/A | — | uncertain significance |
| rs1000504167 | 20:3,063,353 | C/T | — | uncertain significance |
| rs765019311 | 20:3,063,362 | C/T | — | uncertain significance |
| rs1009997849 | 20:3,063,368 | G/A | — | likely benign |
| rs2517099468 | 20:3,063,392 | T/C | — | uncertain significance |
| rs932588483 | 20:3,063,403 | C/T | — | uncertain significance |
| rs549545938 | 20:3,063,406 | C/T | — | conflicting classifications of pathogenicity |
| rs758387902 | 20:3,063,408 | G/A | — | likely benign |
| rs568253217 | 20:3,063,410 | G/A | — | likely benign |
| rs2517099523 | 20:3,063,418 | T/G | — | uncertain significance |
| rs2148570601 | 20:3,063,424 | C/T | — | pathogenic |
| rs74315383 | 20:3,063,425 | A/C | missense variant | pathogenic |
| rs121964889 | 20:3,063,434 | C/T | missense variant | uncertain significance |
| rs1015300508 | 20:3,063,436 | G/A | — | uncertain significance |
| rs1057521601 | 20:3,063,442 | C/T | — | conflicting classifications of pathogenicity |
| rs2517099578 | 20:3,063,443 | A/T | — | likely pathogenic |
| rs1064796944 | 20:3,063,448 | T/A | — | uncertain significance |
| rs2517099608 | 20:3,063,460 | A/C | — | likely benign |
| rs779482841 | 20:3,063,619 | G/T | — | uncertain significance |
| rs1568733815 | 20:3,063,621 | A/C | — | pathogenic |
| rs772747008 | 20:3,063,624 | G/C | — | uncertain significance |
| rs535682482 | 20:3,063,626 | C/T | — | benign |
| rs121964884 | 20:3,063,651 | G/T | stop gained | pathogenic |
| rs2517100221 | 20:3,063,655 | C/T | — | likely pathogenic |
| rs121964886 | 20:3,063,658 | C/A | missense variant | pathogenic |
| rs121964885 | 20:3,063,668 | C/A | missense variant | pathogenic |
| rs121964891 | 20:3,063,670 | C/T | missense variant | pathogenic |
| rs751535373 | 20:3,063,680 | G/C | — | uncertain significance |
| rs756084110 | 20:3,063,681 | G/A | — | likely benign |
| rs121964882 | 20:3,063,683 | C/A | missense variant | pathogenic |
| rs121964890 | 20:3,063,685 | G/A | missense variant | pathogenic |
| rs5195 | 20:3,063,700 | G/A | — | benign |
| rs1600332159 | 20:3,063,705 | G/A | — | likely benign |
| rs193002694 | 20:3,063,715 | T/A | — | conflicting classifications of pathogenicity |
| rs2517100396 | 20:3,063,727 | A/G | — | uncertain significance |
| rs776262970 | 20:3,063,743 | C/G | — | uncertain significance |
| rs28934878 | 20:3,063,745 | A/G | missense variant | pathogenic |
| rs1489047363 | 20:3,063,771 | G/A | — | likely benign |
| rs2517100494 | 20:3,063,781 | G/A | — | pathogenic |
| rs121964887 | 20:3,063,784 | C/A | missense variant | pathogenic |
| rs121964888 | 20:3,063,785 | C/G | missense variant | pathogenic |
| rs371697622 | 20:3,063,795 | G/T | — | likely benign |
| rs121964883 | 20:3,063,802 | C/A | missense variant | pathogenic |
| rs1350221235 | 20:3,063,805 | C/T | — | uncertain significance |
| rs774152864 | 20:3,063,806 | C/T | — | uncertain significance |
| rs572548414 | 20:3,063,813 | G/A | — | likely benign |
| rs1057516192 | 20:3,063,814 | C/A | missense variant | pathogenic |
| rs539928673 | 20:3,063,818 | G/C | — | likely benign |
| rs527727681 | 20:3,064,044 | G/A | — | — |
| rs3787482 | 20:3,064,110 | G/A | — | benign |
| rs2282018 | 20:3,064,949 | C/T | intron variant | benign |
| rs761625433 | 20:3,065,203 | G/C | — | uncertain significance |
| rs868641192 | 20:3,065,212 | C/G | — | uncertain significance |
| rs147447861 | 20:3,065,216 | G/C | — | uncertain significance |
| rs752961032 | 20:3,065,229 | C/T | — | uncertain significance |
| rs121964893 | 20:3,065,260 | A/G | missense variant | pathogenic |
| rs387906512 | 20:3,065,265 | G/A | missense variant | pathogenic |
| rs387906511 | 20:3,065,266 | C/T | missense variant | pathogenic |
| rs769495733 | 20:3,065,267 | G/A | — | likely benign |
| rs150640519 | 20:3,065,288 | G/A | — | likely benign |
| rs121964892 | 20:3,065,301 | G/A | missense variant | pathogenic |
| rs3729965 | 20:3,065,547 | A/G | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.