VANGL2
VANGL planar cell polarity protein 2
Summary
The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs145540354 | 1:160,371,227 | G/C | intron variant | — |
| rs772306942 | 1:160,385,639 | G/A | — | likely benign |
| rs957548164 | 1:160,385,865 | C/G | — | uncertain significance |
| rs141773637 | 1:160,385,871 | C/T | — | likely benign |
| rs752189617 | 1:160,385,928 | G/A | — | uncertain significance |
| rs756206825 | 1:160,388,814 | C/T | — | uncertain significance |
| rs1651161830 | 1:160,388,832 | C/T | — | uncertain significance |
| rs149889263 | 1:160,388,867 | C/T | — | uncertain significance |
| rs2101965388 | 1:160,388,904 | A/G | — | uncertain significance |
| rs2525682180 | 1:160,388,906 | T/C | — | uncertain significance |
| rs200356076 | 1:160,388,932 | G/A | — | likely benign |
| rs757382979 | 1:160,389,002 | C/T | — | benign |
| rs930459293 | 1:160,389,107 | C/T | — | uncertain significance |
| rs148388993 | 1:160,389,322 | G/T | — | uncertain significance |
| rs2525684261 | 1:160,389,329 | C/T | — | uncertain significance |
| rs780694374 | 1:160,389,383 | A/C | — | uncertain significance |
| rs757715341 | 1:160,390,196 | C/G | — | uncertain significance |
| rs200070891 | 1:160,390,242 | A/G | — | benign |
| rs143492133 | 1:160,390,284 | A/G | — | uncertain significance |
| rs1432013469 | 1:160,390,308 | C/T | — | uncertain significance |
| rs199788326 | 1:160,390,875 | G/A | — | uncertain significance |
| rs1001459139 | 1:160,390,890 | C/T | — | uncertain significance |
| rs140982917 | 1:160,390,909 | C/T | — | benign |
| rs267607167 | 1:160,390,961 | C/T | missense variant | risk factor |
| rs765427657 | 1:160,393,869 | C/A | — | uncertain significance |
| rs12086448 | 1:160,393,905 | G/A | — | benign |
| rs202111490 | 1:160,393,930 | C/T | — | uncertain significance |
| rs140848403 | 1:160,394,010 | C/T | — | likely benign |
| rs572362079 | 1:160,394,055 | G/T | — | likely benign |
| rs267607168 | 1:160,394,912 | T/C | missense variant | risk factor |
| rs552247057 | 1:160,394,929 | G/A | — | uncertain significance |
| rs199649451 | 1:160,394,930 | C/T | — | benign |
| rs2525700443 | 1:160,394,936 | G/A | — | uncertain significance |
| rs200961264 | 1:160,394,963 | G/A | — | uncertain significance |
| rs372488057 | 1:160,395,031 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.