SHANK3

SH3 and multiple ankyrin repeat domains 3

Summary

This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]

Known Variants692 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7131169822:51,110,925C/Gregulatory region variant—
rs7534784322:51,112,361G/C——
rs135973152322:51,112,850T/C—uncertain significance
rs118573078122:51,112,912G/T—likely benign
rs137589372522:51,112,967G/C—uncertain significance
rs251836778022:51,112,997G/A—uncertain significance
rs117123005522:51,113,066G/T—conflicting classifications of pathogenicity
rs119686840622:51,113,106G/C—likely benign
rs251836804322:51,113,117G/A—likely benign
rs251836806622:51,113,128A/G—uncertain significance
rs251836808422:51,113,138C/T—uncertain significance
rs93825910222:51,113,154C/T—benign
rs75751641522:51,113,457C/G—likely benign
rs77914064422:51,113,458G/A—likely benign
rs93611449522:51,113,499C/A—likely benign
rs36865897622:51,113,502G/A—likely benign
rs89178020422:51,113,505C/G—likely benign
rs208290892622:51,113,506G/T—uncertain significance
rs76945035622:51,113,517C/T—likely benign
rs54779685222:51,113,521C/T—uncertain significance
rs251836895422:51,113,522A/C—likely benign
rs146173996522:51,113,537C/T—uncertain significance
rs97414950122:51,113,538C/T—likely benign
rs251836900622:51,113,543A/G—uncertain significance
rs76811339322:51,113,586G/A—likely benign
rs251836911222:51,113,596G/C—uncertain significance
rs208290989522:51,113,602G/A—uncertain significance
rs100506202822:51,113,618A/G—uncertain significance
rs129525744422:51,113,619T/C—likely benign
rs120808010622:51,113,660C/T—uncertain significance
rs53024032522:51,113,661G/T—likely benign
rs75837774122:51,113,662C/T—uncertain significance
rs78123518022:51,113,664C/T—likely benign
rs137726422022:51,113,679G/A—uncertain significance
rs160344599722:51,113,681T/G—likely pathogenic
rs156909739222:51,115,053C/T—pathogenic
rs214676870222:51,115,057A/G—uncertain significance
rs251837125322:51,115,060A/G—likely pathogenic
rs208292135322:51,115,063G/A—uncertain significance
rs77768669322:51,115,068G/C—uncertain significance
rs214676874422:51,115,078A/G—uncertain significance
rs125383979422:51,115,082C/G—uncertain significance
rs155590530722:51,115,099A/C—uncertain significance
rs37399414422:51,115,134G/T—likely benign
rs1191202822:51,116,761A/G—likely benign
rs8014976922:51,116,823C/T—likely benign
rs13791072722:51,117,002C/T—benign
rs86711801322:51,117,010C/T—uncertain significance
rs208293490822:51,117,022A/T—pathogenic
rs251837375022:51,117,023A/G—uncertain significance
rs37085678922:51,117,036C/G—likely benign
rs208293510322:51,117,040G/A—uncertain significance
rs55558817222:51,117,057G/A—likely benign
rs125385982622:51,117,061A/C—uncertain significance
rs57387362322:51,117,064G/T—conflicting classifications of pathogenicity
rs75024936822:51,117,070C/T—uncertain significance
rs75817848922:51,117,071G/A—uncertain significance
rs39751470522:51,117,094C/Gmissense variantpathogenic
rs75199847322:51,117,099C/T—likely benign
rs19989319022:51,117,136C/T—likely benign
rs961691422:51,117,137G/A—benign
rs11559284722:51,117,159C/A—likely benign
rs20151131822:51,117,175C/T—benign
rs76726400122:51,117,200G/A—uncertain significance
rs37115410422:51,117,213C/T—likely benign
rs20101391122:51,117,219C/T—likely benign
rs7976299622:51,117,231C/T—likely benign
rs89118610922:51,117,237G/A—likely benign
rs103009725022:51,117,289C/T—uncertain significance
rs251837444522:51,117,304G/A—uncertain significance
rs75784503322:51,117,306C/T—likely benign
rs101878590222:51,117,319A/G—uncertain significance
rs75873830922:51,117,322C/T—uncertain significance
rs37083116722:51,117,323G/A—uncertain significance
rs251837452722:51,117,336G/A—likely benign
rs14257005422:51,117,360C/T—benign
rs20034213122:51,117,369G/A—benign
rs76577986622:51,117,378G/A—likely benign
rs74829869622:51,117,441C/A—uncertain significance
rs37545871122:51,117,458C/A—likely benign
rs77548742722:51,117,490G/A—uncertain significance
rs76038731422:51,117,491C/T—likely benign
rs76839741422:51,117,492G/A—uncertain significance
rs214677256922:51,117,499C/T—uncertain significance
rs18734864022:51,117,506C/G—likely benign
rs208293903622:51,117,508A/G—uncertain significance
rs76685681522:51,117,516G/A—uncertain significance
rs37605285822:51,117,522G/C—uncertain significance
rs105313558822:51,117,523G/C—uncertain significance
rs75634025622:51,117,549C/T—uncertain significance
rs36952583422:51,117,559A/G—uncertain significance
rs118488174222:51,117,561G/A—uncertain significance
rs961691522:51,117,580T/Cmissense variantbenign
rs77848890422:51,117,587C/T—likely benign
rs113169146322:51,117,594G/T—likely pathogenic
rs74775574922:51,117,595G/T—uncertain significance
rs251837518622:51,117,612C/G—uncertain significance
rs113169146422:51,117,614G/T—likely pathogenic
rs131592593222:51,117,617G/A—uncertain significance
rs91658822:51,117,660T/G—benign

Showing 100 of 692 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.