PCDHB6
protocadherin beta 6
Summary
This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3' exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell neural connections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147831522 | 5:140,528,683 | T/C | upstream gene variant | — |
| rs1313002789 | 5:140,529,879 | C/T | — | uncertain significance |
| rs1390293130 | 5:140,529,948 | A/C | — | uncertain significance |
| rs139700824 | 5:140,529,975 | A/G | — | uncertain significance |
| rs2531822260 | 5:140,530,007 | G/A | — | uncertain significance |
| rs1305694795 | 5:140,530,017 | C/T | — | uncertain significance |
| rs781991742 | 5:140,530,022 | G/A | — | uncertain significance |
| rs781789488 | 5:140,530,038 | T/A | — | uncertain significance |
| rs782585896 | 5:140,530,082 | G/A | — | uncertain significance |
| rs2531822640 | 5:140,530,136 | C/T | — | uncertain significance |
| rs142114445 | 5:140,530,248 | T/C | — | uncertain significance |
| rs2531823267 | 5:140,530,338 | A/G | — | uncertain significance |
| rs781990091 | 5:140,530,373 | G/T | — | uncertain significance |
| rs140874959 | 5:140,530,487 | G/C | — | uncertain significance |
| rs782066504 | 5:140,530,500 | G/T | — | uncertain significance |
| rs1752840533 | 5:140,530,514 | G/A | — | uncertain significance |
| rs200295060 | 5:140,530,542 | A/G | — | uncertain significance |
| rs377054777 | 5:140,530,625 | G/A | — | uncertain significance |
| rs782588449 | 5:140,530,634 | A/G | — | uncertain significance |
| rs1326929029 | 5:140,530,650 | G/T | — | uncertain significance |
| rs538695984 | 5:140,530,653 | C/G | — | uncertain significance |
| rs2531824767 | 5:140,530,683 | A/G | — | uncertain significance |
| rs782630963 | 5:140,530,849 | C/A | — | uncertain significance |
| rs144190549 | 5:140,530,875 | C/T | — | uncertain significance |
| rs147390258 | 5:140,530,877 | A/T | — | uncertain significance |
| rs1752855345 | 5:140,530,886 | T/C | — | likely benign |
| rs781906479 | 5:140,530,913 | C/G | — | uncertain significance |
| rs1213894269 | 5:140,530,938 | G/C | — | uncertain significance |
| rs1417569357 | 5:140,531,078 | G/C | — | uncertain significance |
| rs1752865193 | 5:140,531,139 | G/A | — | likely benign |
| rs573025846 | 5:140,531,243 | G/C | — | uncertain significance |
| rs17844436 | 5:140,531,261 | G/A | — | uncertain significance |
| rs782112984 | 5:140,531,315 | G/T | — | uncertain significance |
| rs1752876743 | 5:140,531,368 | C/A | — | likely benign |
| rs17844437 | 5:140,531,374 | T/C | synonymous variant | — |
| rs782629818 | 5:140,531,400 | C/T | — | uncertain significance |
| rs782177492 | 5:140,531,409 | C/A | — | uncertain significance |
| rs2531828007 | 5:140,531,437 | C/A | — | uncertain significance |
| rs781822480 | 5:140,531,451 | C/G | — | uncertain significance |
| rs374444657 | 5:140,531,462 | G/C | — | likely benign |
| rs140574794 | 5:140,531,477 | T/G | — | likely benign |
| rs781860579 | 5:140,531,497 | C/T | — | likely benign |
| rs1563892579 | 5:140,531,609 | G/A | — | uncertain significance |
| rs782794090 | 5:140,531,651 | C/A | — | uncertain significance |
| rs782163696 | 5:140,531,686 | G/C | — | uncertain significance |
| rs1554277919 | 5:140,531,688 | C/A | — | uncertain significance |
| rs376238982 | 5:140,531,694 | A/T | — | uncertain significance |
| rs782309702 | 5:140,531,698 | C/G | — | likely benign |
| rs143975905 | 5:140,531,725 | C/A | — | uncertain significance |
| rs570644983 | 5:140,531,765 | A/G | — | uncertain significance |
| rs782303093 | 5:140,531,808 | A/G | — | uncertain significance |
| rs868965199 | 5:140,531,836 | G/A | — | likely benign |
| rs373456785 | 5:140,531,864 | C/G | — | likely benign |
| rs1554277986 | 5:140,531,865 | C/G | — | uncertain significance |
| rs1368556065 | 5:140,531,886 | C/T | — | uncertain significance |
| rs782387644 | 5:140,531,919 | C/T | — | uncertain significance |
| rs782050570 | 5:140,531,936 | C/T | — | uncertain significance |
| rs368852463 | 5:140,532,032 | G/A | — | uncertain significance |
| rs139339229 | 5:140,532,039 | T/A | — | uncertain significance |
| rs781898001 | 5:140,532,053 | G/C | — | uncertain significance |
| rs1554278062 | 5:140,532,060 | G/A | — | uncertain significance |
| rs138549166 | 5:140,532,137 | C/A | — | uncertain significance |
| rs375830519 | 5:140,532,150 | A/G | — | uncertain significance |
| rs371568945 | 5:140,532,213 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.