NPAS3
neuronal PAS domain protein 3
Summary
This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and cognitive disability. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Known Variants81 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17099745 | 14:33,424,488 | G/A | intron variant | — |
| rs4982029 | 14:33,476,266 | G/A | intron variant | — |
| rs8015959 | 14:33,480,922 | C/T | intron variant | — |
| rs146344777 | 14:33,584,206 | G/A | intron variant | — |
| rs17460823 | 14:33,586,563 | G/A | intron variant | — |
| rs17100281 | 14:33,629,140 | G/A | intron variant | — |
| rs373408008 | 14:33,673,213 | G/C | — | — |
| rs7151302 | 14:33,684,117 | C/G | — | — |
| rs367733281 | 14:33,684,380 | G/A | — | likely benign |
| rs751945494 | 14:33,684,493 | A/C | — | likely benign |
| rs139734921 | 14:33,684,541 | T/C | — | benign |
| rs777443078 | 14:33,684,597 | G/A | — | uncertain significance |
| rs11621099 | 14:33,686,199 | G/A | intron variant | — |
| rs243286 | 14:33,710,787 | T/C | intron variant | — |
| rs538185065 | 14:33,774,280 | G/A | — | — |
| rs2274511 | 14:33,829,320 | C/T | intron variant | — |
| rs11845867 | 14:33,918,038 | C/G | intron variant | — |
| rs12590660 | 14:34,016,464 | C/A | — | — |
| rs8004379 | 14:34,068,701 | A/C | intron variant | — |
| rs75328285 | 14:34,088,739 | G/A | intron variant | — |
| rs114017096 | 14:34,145,408 | G/A | — | benign |
| rs148495565 | 14:34,145,474 | A/C | — | uncertain significance |
| rs779401848 | 14:34,145,504 | C/A | — | uncertain significance |
| rs1257236436 | 14:34,145,555 | G/A | — | uncertain significance |
| rs534455944 | 14:34,197,253 | T/C | — | — |
| rs750214894 | 14:34,243,557 | A/G | — | likely benign |
| rs140216744 | 14:34,243,570 | C/G | — | uncertain significance |
| rs2549524569 | 14:34,243,579 | T/G | — | uncertain significance |
| rs776193624 | 14:34,243,624 | G/A | — | uncertain significance |
| rs2138471675 | 14:34,243,696 | C/T | — | uncertain significance |
| rs748669262 | 14:34,243,715 | A/G | — | uncertain significance |
| rs1324942378 | 14:34,247,748 | G/C | — | uncertain significance |
| rs140754640 | 14:34,266,729 | C/T | — | likely benign |
| rs144841798 | 14:34,266,771 | C/A | — | uncertain significance |
| rs1163798900 | 14:34,268,951 | A/G | — | uncertain significance |
| rs2549570480 | 14:34,268,981 | T/A | — | uncertain significance |
| rs142552405 | 14:34,268,992 | C/T | — | benign |
| rs146419048 | 14:34,269,013 | G/C | — | likely benign |
| rs370797702 | 14:34,269,018 | A/C | — | uncertain significance |
| rs761489524 | 14:34,269,044 | A/G | — | uncertain significance |
| rs2549570846 | 14:34,269,083 | G/A | — | uncertain significance |
| rs200547283 | 14:34,269,152 | T/C | — | uncertain significance |
| rs12434716 | 14:34,269,167 | G/C | missense variant | — |
| rs758642018 | 14:34,269,170 | A/T | — | uncertain significance |
| rs372902095 | 14:34,269,203 | G/A | — | uncertain significance |
| rs770665316 | 14:34,269,279 | C/G | — | uncertain significance |
| rs376867231 | 14:34,269,303 | A/C | — | uncertain significance |
| rs760726484 | 14:34,269,304 | C/A | — | uncertain significance |
| rs1421750160 | 14:34,269,312 | G/T | — | uncertain significance |
| rs767887544 | 14:34,269,341 | G/T | — | uncertain significance |
| rs201069504 | 14:34,269,370 | C/G | — | benign |
| rs1281049056 | 14:34,269,429 | C/T | — | uncertain significance |
| rs745486995 | 14:34,269,435 | A/G | — | uncertain significance |
| rs746892610 | 14:34,269,446 | G/A | — | uncertain significance |
| rs1472508607 | 14:34,269,468 | T/C | — | uncertain significance |
| rs779790207 | 14:34,269,587 | C/A | — | uncertain significance |
| rs368102183 | 14:34,269,610 | T/G | — | benign |
| rs577922546 | 14:34,269,617 | G/A | — | uncertain significance |
| rs762396688 | 14:34,269,626 | G/A | — | uncertain significance |
| rs201277410 | 14:34,269,630 | G/A | — | likely benign |
| rs2549572972 | 14:34,269,659 | C/T | — | uncertain significance |
| rs780038677 | 14:34,269,661 | C/T | — | likely benign |
| rs10141940 | 14:34,269,721 | C/T | synonymous variant | — |
| rs1324863469 | 14:34,269,722 | G/A | — | likely benign |
| rs2063672512 | 14:34,269,726 | C/A | — | uncertain significance |
| rs2549573618 | 14:34,269,767 | T/G | — | uncertain significance |
| rs2549573622 | 14:34,269,768 | C/G | — | uncertain significance |
| rs184441344 | 14:34,269,769 | G/A | — | benign |
| rs10142034 | 14:34,269,775 | C/T | synonymous variant | — |
| rs1011014911 | 14:34,269,812 | G/A | — | uncertain significance |
| rs773780585 | 14:34,269,816 | G/A | — | uncertain significance |
| rs1269285240 | 14:34,269,826 | C/T | — | likely benign |
| rs1017469229 | 14:34,269,836 | G/A | — | uncertain significance |
| rs532463658 | 14:34,269,850 | C/A | — | uncertain significance |
| rs991368681 | 14:34,269,956 | G/T | — | uncertain significance |
| rs2549574607 | 14:34,269,959 | A/G | — | uncertain significance |
| rs371371307 | 14:34,269,975 | A/G | — | uncertain significance |
| rs2549574847 | 14:34,270,037 | A/G | — | likely benign |
| rs201898289 | 14:34,270,090 | C/G | — | likely benign |
| rs746408254 | 14:34,270,098 | G/A | — | uncertain significance |
| rs754171700 | 14:34,270,106 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.