WASF2
WASP family member 2
Summary
This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. The published map location (PMID:10381382) has been changed based on recent genomic sequence comparisons, which indicate that the expressed gene is located on chromosome 1, and a pseudogene may be located on chromosome X. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11548323 | 1:27,731,651 | C/T | regulatory region variant | — |
| rs199618327 | 1:27,734,687 | T/C | — | uncertain significance |
| rs2522527194 | 1:27,734,759 | G/C | — | uncertain significance |
| rs374057413 | 1:27,734,829 | G/A | — | uncertain significance |
| rs759484609 | 1:27,736,266 | A/G | — | uncertain significance |
| rs148528717 | 1:27,736,269 | G/A | — | uncertain significance |
| rs150974534 | 1:27,736,326 | G/A | — | uncertain significance |
| rs1016723332 | 1:27,736,334 | A/G | — | likely benign |
| rs746315475 | 1:27,736,348 | G/T | — | uncertain significance |
| rs767416254 | 1:27,736,428 | G/C | — | uncertain significance |
| rs1385327165 | 1:27,736,528 | G/A | — | uncertain significance |
| rs762995655 | 1:27,736,548 | G/A | — | uncertain significance |
| rs765943231 | 1:27,736,584 | G/A | — | uncertain significance |
| rs1172205680 | 1:27,736,597 | G/T | — | uncertain significance |
| rs2504764 | 1:27,738,139 | C/T | intron variant | — |
| rs978061287 | 1:27,739,078 | G/A | — | uncertain significance |
| rs562910438 | 1:27,739,120 | G/A | — | uncertain significance |
| rs149705388 | 1:27,739,150 | G/A | — | likely benign |
| rs749158379 | 1:27,739,159 | C/T | — | uncertain significance |
| rs761162622 | 1:27,739,199 | G/T | — | uncertain significance |
| rs751661422 | 1:27,741,456 | T/C | — | uncertain significance |
| rs200627354 | 1:27,742,573 | T/C | — | uncertain significance |
| rs2522552011 | 1:27,744,851 | C/T | — | uncertain significance |
| rs547046909 | 1:27,744,876 | T/C | — | uncertain significance |
| rs1411340987 | 1:27,745,532 | G/A | — | uncertain significance |
| rs2504768 | 1:27,748,978 | G/A | intron variant | — |
| rs779097597 | 1:27,755,319 | C/T | — | likely benign |
| rs1159173765 | 1:27,755,331 | C/T | — | uncertain significance |
| rs144140646 | 1:27,755,340 | C/T | — | uncertain significance |
| rs775683220 | 1:27,755,379 | T/C | — | uncertain significance |
| rs113035001 | 1:27,756,061 | G/C | intron variant | — |
| rs6682650 | 1:27,780,127 | A/G | upstream gene variant | — |
| rs182184450 | 1:27,787,525 | T/G | downstream gene variant | — |
| rs146901198 | 1:27,798,940 | T/A | — | — |
| rs539303643 | 1:27,807,115 | G/C | — | — |
| rs9438578 | 1:27,813,540 | A/T | intron variant | — |
| rs190374349 | 1:27,817,091 | A/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.