YWHAG
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
Summary
This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008]
Known Variants157 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs565105497 | 7:75,957,349 | A/G | — | — |
| rs2115587137 | 7:75,958,897 | A/G | — | likely benign |
| rs2115587151 | 7:75,958,902 | T/C | — | uncertain significance |
| rs780581872 | 7:75,958,909 | G/A | — | likely benign |
| rs73703133 | 7:75,958,912 | G/A | — | likely benign |
| rs2115587211 | 7:75,958,916 | T/C | — | likely benign |
| rs769355192 | 7:75,958,917 | C/T | — | uncertain significance |
| rs781716537 | 7:75,958,918 | G/A | — | likely benign |
| rs373159011 | 7:75,958,921 | G/A | — | likely benign |
| rs769886526 | 7:75,958,927 | C/T | — | likely benign |
| rs377321607 | 7:75,958,936 | C/T | — | likely benign |
| rs144055251 | 7:75,958,942 | G/A | — | benign |
| rs150625762 | 7:75,958,945 | C/T | — | benign |
| rs2536180495 | 7:75,958,951 | G/T | — | uncertain significance |
| rs1803513530 | 7:75,958,954 | G/A | — | likely benign |
| rs1803513587 | 7:75,958,955 | T/A | — | likely pathogenic |
| rs2115587401 | 7:75,958,956 | C/T | — | likely pathogenic |
| rs760447255 | 7:75,958,957 | G/A | — | likely benign |
| rs976974186 | 7:75,958,975 | G/A | — | likely benign |
| rs563125209 | 7:75,958,978 | C/T | — | likely benign |
| rs2115587495 | 7:75,958,990 | G/T | — | uncertain significance |
| rs377449770 | 7:75,958,993 | G/A | — | likely benign |
| rs761611362 | 7:75,959,002 | G/A | — | likely benign |
| rs778464365 | 7:75,959,005 | G/A | — | likely benign |
| rs2115587574 | 7:75,959,014 | A/C | — | likely benign |
| rs2536180601 | 7:75,959,019 | C/T | — | pathogenic |
| rs374125541 | 7:75,959,020 | G/A | — | likely benign |
| rs755349826 | 7:75,959,022 | C/T | — | uncertain significance |
| rs1317613383 | 7:75,959,026 | G/A | — | likely benign |
| rs78824969 | 7:75,959,029 | G/A | — | likely benign |
| rs149806343 | 7:75,959,032 | G/A | — | likely benign |
| rs770141470 | 7:75,959,035 | G/A | — | likely benign |
| rs777911913 | 7:75,959,038 | C/T | — | likely benign |
| rs771197922 | 7:75,959,041 | G/A | — | likely benign |
| rs1239029948 | 7:75,959,047 | G/C | — | likely benign |
| rs374159775 | 7:75,959,052 | A/G | — | likely benign |
| rs760500221 | 7:75,959,053 | G/A | — | benign |
| rs2536180763 | 7:75,959,055 | G/A | — | uncertain significance |
| rs145754520 | 7:75,959,059 | C/T | — | benign |
| rs2536180773 | 7:75,959,060 | G/A | — | conflicting classifications of pathogenicity |
| rs761827450 | 7:75,959,065 | C/T | — | likely benign |
| rs750023346 | 7:75,959,071 | G/T | — | likely benign |
| rs1803516177 | 7:75,959,072 | G/T | — | uncertain significance |
| rs79130202 | 7:75,959,074 | G/A | — | likely benign |
| rs532533392 | 7:75,959,078 | T/A | — | uncertain significance |
| rs754546897 | 7:75,959,083 | C/T | — | likely benign |
| rs1803516480 | 7:75,959,086 | A/T | — | uncertain significance |
| rs894311679 | 7:75,959,095 | G/A | — | likely benign |
| rs2536180810 | 7:75,959,096 | A/G | — | pathogenic |
| rs1803516636 | 7:75,959,097 | C/T | — | uncertain significance |
| rs368289861 | 7:75,959,098 | G/A | — | likely benign |
| rs2536180818 | 7:75,959,109 | G/A | — | pathogenic |
| rs2115588022 | 7:75,959,114 | A/G | — | uncertain significance |
| rs749415903 | 7:75,959,116 | G/A | — | likely benign |
| rs2115588034 | 7:75,959,119 | T/C | — | likely benign |
| rs2536180828 | 7:75,959,120 | A/C | — | pathogenic |
| rs1450964005 | 7:75,959,128 | G/A | — | likely benign |
| rs2536180846 | 7:75,959,131 | G/A | — | likely benign |
| rs2536180862 | 7:75,959,147 | T/C | — | uncertain significance |
| rs547605838 | 7:75,959,153 | T/C | — | benign |
| rs746119956 | 7:75,959,163 | C/T | — | uncertain significance |
| rs143403499 | 7:75,959,164 | G/A | — | likely benign |
| rs968469035 | 7:75,959,167 | G/A | — | likely benign |
| rs111385409 | 7:75,959,173 | G/A | — | likely benign |
| rs2536180897 | 7:75,959,176 | G/C | — | pathogenic |
| rs2115588284 | 7:75,959,183 | T/C | — | uncertain significance |
| rs1389455796 | 7:75,959,187 | C/A | — | pathogenic |
| rs2072435 | 7:75,959,188 | G/A | — | benign |
| rs1406836939 | 7:75,959,200 | C/A | — | likely benign |
| rs766018409 | 7:75,959,203 | C/T | — | likely benign |
| rs773949985 | 7:75,959,204 | G/A | — | uncertain significance |
| rs140411299 | 7:75,959,206 | C/T | — | likely benign |
| rs776692453 | 7:75,959,207 | G/A | — | uncertain significance |
| rs1224824021 | 7:75,959,213 | T/C | — | uncertain significance |
| rs1803518492 | 7:75,959,220 | C/T | — | uncertain significance |
| rs145834900 | 7:75,959,221 | G/A | — | likely benign |
| rs2536181009 | 7:75,959,239 | G/A | — | likely benign |
| rs1554616627 | 7:75,959,240 | T/C | — | pathogenic |
| rs1583981615 | 7:75,959,243 | C/T | — | conflicting classifications of pathogenicity |
| rs1554616628 | 7:75,959,244 | G/A | — | pathogenic |
| rs757708675 | 7:75,959,248 | G/A | — | likely benign |
| rs1554616630 | 7:75,959,251 | G/C | — | pathogenic |
| rs778981755 | 7:75,959,254 | C/T | — | likely benign |
| rs921555508 | 7:75,959,269 | G/A | — | likely benign |
| rs745872119 | 7:75,959,279 | T/C | — | likely benign |
| rs144143195 | 7:75,959,287 | G/A | — | likely benign |
| rs2536181076 | 7:75,959,289 | A/T | — | uncertain significance |
| rs2536181078 | 7:75,959,290 | C/T | — | likely benign |
| rs780129232 | 7:75,959,293 | G/A | — | likely benign |
| rs748026712 | 7:75,959,299 | G/A | — | likely benign |
| rs2536181109 | 7:75,959,311 | G/A | — | likely benign |
| rs2536181112 | 7:75,959,314 | C/T | — | likely benign |
| rs2536181115 | 7:75,959,317 | G/A | — | likely benign |
| rs1351412733 | 7:75,959,337 | G/C | — | uncertain significance |
| rs759611694 | 7:75,959,343 | C/T | — | uncertain significance |
| rs1261253487 | 7:75,959,344 | C/T | — | likely benign |
| rs1803519912 | 7:75,959,353 | A/G | — | likely benign |
| rs2115588825 | 7:75,959,359 | C/G | — | uncertain significance |
| rs758954176 | 7:75,959,381 | C/T | — | uncertain significance |
| rs1563661628 | 7:75,959,382 | G/C | — | uncertain significance |
Showing 100 of 157 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.