WAC

WW domain containing adaptor with coiled-coil

Summary

The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

Known Variants208 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1276742910:28,822,373A/C—benign
rs76322663010:28,822,460C/G—likely benign
rs52824866210:28,822,490A/G—benign
rs213229022010:28,822,503G/T—uncertain significance
rs213229025210:28,822,506T/C—uncertain significance
rs213229028310:28,822,516T/C—uncertain significance
rs158911005010:28,822,533C/T—pathogenic
rs13993548910:28,822,539C/T—uncertain significance
rs19969914310:28,822,559C/T—likely benign
rs56220687110:28,822,587G/T—benign
rs14893833410:28,822,741T/C—likely benign
rs18245182410:28,822,853G/A—likely benign
rs136643166910:28,822,944G/A—uncertain significance
rs130954414510:28,822,951G/T—likely benign
rs183646400010:28,822,952C/T—likely pathogenic
rs121644214410:28,822,959A/G—uncertain significance
rs213229546910:28,822,964G/A—not provided
rs14369908410:28,822,982G/T—benign
rs37577216910:28,822,986A/G—benign
rs20207981010:28,822,997G/A—benign
rs3513672410:28,823,126G/A—benign
rs56109778210:28,823,127C/T—benign
rs248664010:28,824,264G/T—benign
rs20118382510:28,824,485T/C—benign
rs95843101810:28,824,507C/T—uncertain significance
rs20107407110:28,824,508G/A—likely benign
rs86432169310:28,824,524——pathogenic
rs183660704010:28,824,537G/A—uncertain significance
rs36854386910:28,824,551C/T—pathogenic
rs37482144210:28,824,552G/A—conflicting classifications of pathogenicity
rs249153654810:28,824,619C/A—pathogenic
rs183661357510:28,824,620A/G—uncertain significance
rs213230814510:28,824,645C/A—uncertain significance
rs249153714210:28,824,672G/C—uncertain significance
rs158911554910:28,824,689G/A—conflicting classifications of pathogenicity
rs37010101310:28,824,738A/G—benign
rs279044510:28,824,941T/C—likely benign
rs14612236310:28,824,942G/A—likely benign
rs213248504310:28,850,009G/T—uncertain significance
rs279045710:28,856,819G/C——
rs33214110:28,862,152C/Tintron variant—
rs213262898610:28,872,327G/A—likely pathogenic
rs76929673910:28,872,329G/A—likely benign
rs55826566310:28,872,331C/G—uncertain significance
rs14245061510:28,872,337A/G—benign
rs249192667610:28,872,354T/A—uncertain significance
rs249192687210:28,872,366A/G—uncertain significance
rs183964155710:28,872,367G/T—uncertain significance
rs15133409010:28,872,377T/C—likely benign
rs249192708210:28,872,382C/G—pathogenic
rs20048157810:28,872,390C/T—likely benign
rs18948171610:28,872,409A/T—benign
rs94964973910:28,872,420A/C—uncertain significance
rs86432169210:28,872,427C/Astop gainedpathogenic
rs75079427110:28,872,429G/C—uncertain significance
rs54157640010:28,872,540T/A—likely benign
rs18358992610:28,872,541T/A—likely benign
rs18680099310:28,878,470A/G—likely benign
rs155478709610:28,878,663A/G—pathogenic
rs136025467610:28,878,673T/G—uncertain significance
rs183999665710:28,878,688G/A—pathogenic
rs13793762510:28,878,715A/G—benign
rs155478711010:28,878,720A/G—uncertain significance
rs213266920610:28,878,727C/A—pathogenic
rs88604161410:28,878,734C/Gmissense variantuncertain significance
rs75186197910:28,878,738C/T—uncertain significance
rs213266933110:28,878,743G/A—conflicting classifications of pathogenicity
rs249196632110:28,878,752T/C—uncertain significance
rs97594795110:28,878,782T/G—likely pathogenic
rs20045033710:28,878,794A/T—benign
rs18134129110:28,878,849A/G—likely benign
rs15066431010:28,878,906A/G—likely benign
rs11536064510:28,879,111A/G—likely benign
rs56969625610:28,879,603G/T—benign
rs7762372810:28,879,641A/G—likely benign
rs113540176910:28,879,647A/G—pathogenic
rs184004080910:28,879,659C/T—pathogenic
rs75665904410:28,879,690G/A—uncertain significance
rs15002454610:28,879,721G/A—likely benign
rs96382280310:28,879,728C/T—pathogenic
rs18838401010:28,879,734A/G—likely benign
rs249197281610:28,879,763T/G—likely pathogenic
rs4128372410:28,879,838A/G—benign
rs33215810:28,884,362G/A—benign
rs18287684910:28,884,629C/G—benign
rs136927746810:28,884,659A/C—uncertain significance
rs77086700510:28,884,691A/G—likely benign
rs213270875210:28,884,709A/C—uncertain significance
rs106479486710:28,884,709——pathogenic
rs91747484810:28,884,716C/A—uncertain significance
rs134139527310:28,884,761C/T—uncertain significance
rs37701889610:28,884,781A/C—likely benign
rs36924982910:28,884,787G/C—likely benign
rs129525641010:28,884,814C/G—uncertain significance
rs36979300710:28,884,820A/G—benign
rs54829877110:28,884,857C/T—likely benign
rs213270960710:28,884,862C/T—likely pathogenic
rs37392807910:28,884,888A/G—likely benign
rs77374421610:28,884,890T/C—likely benign
rs213270992110:28,884,908C/A—uncertain significance

Showing 100 of 208 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.