CNKSR2
connector enhancer of kinase suppressor of Ras 2
Summary
This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and inhibits apoptosis in certain cancer cells. It may also play a role in ternary complex assembly of synaptic proteins at the postsynaptic membrane and coupling of signal transduction to membrane/cytoskeletal remodeling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Known Variants139 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2090566346 | X:21,444,623 | G/A | — | uncertain significance |
| rs886041712 | X:21,444,664 | — | — | pathogenic |
| rs2518787428 | X:21,444,669 | G/A | — | uncertain significance |
| rs1569161669 | X:21,444,678 | A/G | — | uncertain significance |
| rs756206673 | X:21,444,686 | C/T | — | uncertain significance |
| rs1397199866 | X:21,444,726 | G/A | — | uncertain significance |
| rs2518787800 | X:21,444,729 | T/C | — | uncertain significance |
| rs757776373 | X:21,444,742 | A/G | — | conflicting classifications of pathogenicity |
| rs2518787877 | X:21,444,746 | A/G | — | uncertain significance |
| rs1569161831 | X:21,444,779 | G/A | — | likely pathogenic |
| rs1167304415 | X:21,450,779 | A/G | — | uncertain significance |
| rs2518807154 | X:21,450,787 | G/A | — | uncertain significance |
| rs2090650922 | X:21,450,799 | C/T | — | pathogenic |
| rs1275639428 | X:21,450,815 | G/A | — | uncertain significance |
| rs554125982 | X:21,450,864 | A/G | — | likely benign |
| rs1240294498 | X:21,458,815 | A/G | — | likely benign |
| rs2090771770 | X:21,458,816 | C/G | — | uncertain significance |
| rs2518828993 | X:21,458,832 | C/G | — | uncertain significance |
| rs2518829058 | X:21,458,843 | G/T | — | uncertain significance |
| rs376118490 | X:21,458,857 | T/C | — | likely benign |
| rs34161348 | X:21,488,889 | T/C | — | benign |
| rs2518911519 | X:21,488,890 | A/T | — | uncertain significance |
| rs2518911781 | X:21,488,927 | T/G | — | uncertain significance |
| rs73203336 | X:21,489,459 | C/T | intron variant | — |
| rs62590551 | X:21,494,390 | A/G | intron variant | — |
| rs1056734035 | X:21,508,603 | C/A | — | uncertain significance |
| rs759415675 | X:21,508,607 | A/G | — | uncertain significance |
| rs77732468 | X:21,508,666 | A/G | — | benign |
| rs375737212 | X:21,508,687 | C/T | — | likely benign |
| rs2518970563 | X:21,508,705 | T/C | — | likely benign |
| rs2518990270 | X:21,515,937 | C/G | — | uncertain significance |
| rs372333253 | X:21,515,968 | A/G | — | uncertain significance |
| rs2519001813 | X:21,519,674 | G/A | — | uncertain significance |
| rs2147096420 | X:21,534,639 | C/T | — | pathogenic |
| rs2147096468 | X:21,534,660 | A/G | — | uncertain significance |
| rs201553334 | X:21,534,688 | G/A | — | uncertain significance |
| rs2519082024 | X:21,544,980 | A/G | — | uncertain significance |
| rs2091840428 | X:21,544,984 | G/A | — | uncertain significance |
| rs2519082137 | X:21,544,986 | C/T | — | uncertain significance |
| rs2519082359 | X:21,545,009 | A/G | — | uncertain significance |
| rs759498814 | X:21,545,015 | G/A | — | likely benign |
| rs2519082614 | X:21,545,028 | C/T | — | uncertain significance |
| rs2091841106 | X:21,545,030 | A/G | — | uncertain significance |
| rs1173210591 | X:21,545,111 | A/G | — | uncertain significance |
| rs2519083192 | X:21,545,117 | A/G | — | likely pathogenic |
| rs2091889230 | X:21,549,975 | G/A | — | uncertain significance |
| rs151168016 | X:21,549,997 | G/C | — | uncertain significance |
| rs2519100957 | X:21,550,005 | C/T | — | uncertain significance |
| rs2519101094 | X:21,550,020 | G/A | — | uncertain significance |
| rs2519101342 | X:21,550,080 | C/T | — | pathogenic |
| rs2091890198 | X:21,550,101 | G/A | — | uncertain significance |
| rs2147123782 | X:21,550,117 | T/A | — | pathogenic |
| rs1419864564 | X:21,550,150 | G/A | — | uncertain significance |
| rs1064794022 | X:21,550,164 | C/T | stop gained | pathogenic |
| rs775075264 | X:21,550,171 | G/A | — | uncertain significance |
| rs1177611894 | X:21,550,174 | C/T | — | uncertain significance |
| rs1555941759 | X:21,550,186 | G/C | — | likely pathogenic |
| rs6633421 | X:21,569,920 | A/C | — | — |
| rs2092188951 | X:21,579,618 | G/C | — | uncertain significance |
| rs2519208511 | X:21,579,644 | A/T | — | uncertain significance |
| rs2092208925 | X:21,581,409 | A/G | — | uncertain significance |
| rs760890681 | X:21,581,420 | A/G | — | conflicting classifications of pathogenicity |
| rs144866575 | X:21,581,459 | G/A | — | likely benign |
| rs2519215374 | X:21,581,467 | A/G | — | uncertain significance |
| rs1160732613 | X:21,581,499 | C/T | — | uncertain significance |
| rs2147191275 | X:21,581,526 | C/T | — | likely pathogenic |
| rs2519215869 | X:21,581,554 | A/C | — | uncertain significance |
| rs2092414327 | X:21,608,696 | C/T | — | likely pathogenic |
| rs2519299753 | X:21,608,739 | G/A | — | likely pathogenic |
| rs193261661 | X:21,608,907 | A/T | — | likely benign |
| rs371945192 | X:21,609,159 | C/T | — | likely benign |
| rs2092417438 | X:21,609,161 | A/G | — | uncertain significance |
| rs2092417476 | X:21,609,167 | G/A | — | uncertain significance |
| rs2092417660 | X:21,609,193 | G/A | — | uncertain significance |
| rs1569261319 | X:21,609,216 | G/A | — | pathogenic |
| rs2147250007 | X:21,609,217 | A/T | — | pathogenic |
| rs1045082064 | X:21,609,231 | G/A | — | likely benign |
| rs1003662009 | X:21,609,287 | C/A | — | uncertain significance |
| rs750208984 | X:21,613,156 | G/A | — | uncertain significance |
| rs2519317770 | X:21,613,171 | T/C | — | uncertain significance |
| rs2147258522 | X:21,613,440 | A/G | — | pathogenic |
| rs2092480152 | X:21,619,399 | G/A | — | pathogenic |
| rs2519335839 | X:21,619,430 | A/G | — | likely benign |
| rs2147268813 | X:21,619,464 | C/T | — | pathogenic |
| rs757338945 | X:21,619,465 | A/G | — | likely benign |
| rs757576213 | X:21,624,947 | A/C | — | uncertain significance |
| rs904072058 | X:21,624,986 | C/T | stop gained | pathogenic |
| rs747391941 | X:21,624,997 | G/T | — | uncertain significance |
| rs1064793729 | X:21,624,998 | G/A | — | pathogenic |
| rs780184046 | X:21,627,195 | T/A | — | uncertain significance |
| rs751955877 | X:21,627,197 | C/T | — | likely benign |
| rs2519358174 | X:21,627,228 | C/T | — | pathogenic |
| rs113091231 | X:21,627,242 | G/A | — | conflicting classifications of pathogenicity |
| rs1064794868 | X:21,627,267 | C/T | — | uncertain significance |
| rs2519358430 | X:21,627,271 | A/C | — | uncertain significance |
| rs1160554444 | X:21,627,291 | A/T | — | likely benign |
| rs1569272271 | X:21,627,343 | C/T | — | likely pathogenic |
| rs2147283343 | X:21,627,379 | C/G | — | pathogenic |
| rs886041798 | X:21,627,383 | — | — | pathogenic |
| rs2147283373 | X:21,627,388 | A/G | — | uncertain significance |
Showing 100 of 139 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.