EML4
EMAP like 4
Summary
This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]
Known Variants73 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs34218234 | 2:42,446,666 | G/C | intron variant | — |
| rs113909364 | 2:42,472,672 | C/T | — | likely benign |
| rs144282685 | 2:42,483,665 | T/C | — | uncertain significance |
| rs151065528 | 2:42,483,686 | A/G | — | uncertain significance |
| rs142252734 | 2:42,483,713 | G/C | — | uncertain significance |
| rs774073765 | 2:42,483,743 | A/C | — | uncertain significance |
| rs752948630 | 2:42,488,302 | A/G | — | uncertain significance |
| rs759599372 | 2:42,488,350 | C/T | — | uncertain significance |
| rs763563612 | 2:42,488,359 | C/G | — | uncertain significance |
| rs2465472343 | 2:42,488,361 | C/T | — | uncertain significance |
| rs143474845 | 2:42,488,395 | G/A | — | uncertain significance |
| rs369448526 | 2:42,490,380 | G/A | — | uncertain significance |
| rs773409961 | 2:42,490,384 | T/A | — | uncertain significance |
| rs771258840 | 2:42,490,389 | T/G | — | uncertain significance |
| rs767194253 | 2:42,490,417 | A/C | — | uncertain significance |
| rs73933519 | 2:42,490,456 | G/A | — | benign |
| rs754788980 | 2:42,491,859 | A/G | — | uncertain significance |
| rs10490558 | 2:42,502,940 | A/G | intron variant | — |
| rs540700419 | 2:42,508,028 | A/G | — | uncertain significance |
| rs72972015 | 2:42,508,048 | C/T | — | benign |
| rs2465561168 | 2:42,508,068 | A/T | — | uncertain significance |
| rs2465561225 | 2:42,508,076 | A/C | — | uncertain significance |
| rs780699344 | 2:42,508,077 | C/T | — | uncertain significance |
| rs2465561451 | 2:42,508,100 | A/G | — | uncertain significance |
| rs6736913 | 2:42,510,018 | A/G | missense variant | benign |
| rs138490423 | 2:42,510,034 | T/C | — | uncertain significance |
| rs1667190966 | 2:42,511,836 | A/T | — | uncertain significance |
| rs146370925 | 2:42,513,424 | G/A | — | uncertain significance |
| rs767646130 | 2:42,513,452 | C/G | — | uncertain significance |
| rs369031095 | 2:42,515,404 | A/G | — | uncertain significance |
| rs143932826 | 2:42,515,451 | G/A | — | likely benign |
| rs758963694 | 2:42,522,290 | T/C | — | uncertain significance |
| rs372183473 | 2:42,522,319 | A/G | — | uncertain significance |
| rs140319582 | 2:42,522,368 | A/G | — | uncertain significance |
| rs150928977 | 2:42,522,570 | G/C | — | uncertain significance |
| rs763205004 | 2:42,522,602 | A/G | — | uncertain significance |
| rs762250623 | 2:42,522,618 | A/T | — | uncertain significance |
| rs778354124 | 2:42,522,651 | C/T | — | uncertain significance |
| rs143911025 | 2:42,528,414 | A/G | — | uncertain significance |
| rs778995895 | 2:42,528,507 | A/T | — | uncertain significance |
| rs141416280 | 2:42,530,274 | G/A | — | uncertain significance |
| rs139630593 | 2:42,530,292 | G/A | — | uncertain significance |
| rs767938883 | 2:42,530,343 | A/T | — | uncertain significance |
| rs756616037 | 2:42,530,347 | A/T | — | uncertain significance |
| rs375805090 | 2:42,530,504 | T/G | — | uncertain significance |
| rs560179083 | 2:42,530,529 | G/T | — | uncertain significance |
| rs2465663005 | 2:42,531,672 | A/T | — | uncertain significance |
| rs13398148 | 2:42,536,588 | T/A | — | — |
| rs773927964 | 2:42,543,131 | A/T | — | uncertain significance |
| rs199806493 | 2:42,544,582 | C/G | — | uncertain significance |
| rs201437414 | 2:42,544,584 | G/A | — | uncertain significance |
| rs2465721584 | 2:42,544,629 | A/G | — | uncertain significance |
| rs186464897 | 2:42,552,603 | C/G | — | benign |
| rs781779488 | 2:42,552,624 | C/G | — | uncertain significance |
| rs34894922 | 2:42,553,315 | A/G | — | uncertain significance |
| rs746208179 | 2:42,556,082 | A/G | — | uncertain significance |
| rs202008623 | 2:42,556,109 | G/A | — | uncertain significance |
| rs752618961 | 2:42,556,147 | C/T | — | likely benign |
| rs370089045 | 2:42,556,935 | A/G | — | uncertain significance |
| rs140486677 | 2:42,557,012 | C/T | — | uncertain significance |
| rs754133469 | 2:42,557,033 | G/C | — | uncertain significance |
| rs377618554 | 2:42,557,057 | G/A | — | likely benign |
| rs373483269 | 2:42,557,094 | C/T | — | uncertain significance |
| rs201541248 | 2:42,557,100 | C/T | — | uncertain significance |
| rs766514307 | 2:42,557,114 | C/T | — | likely benign |
| rs2465770746 | 2:42,557,118 | T/C | — | uncertain significance |
| rs549346320 | 2:42,557,145 | G/A | — | uncertain significance |
| rs779628494 | 2:42,557,159 | C/A | — | uncertain significance |
| rs1403580678 | 2:42,557,212 | C/G | — | uncertain significance |
| rs142699681 | 2:42,557,222 | G/C | — | likely benign |
| rs771807020 | 2:42,557,273 | T/G | — | uncertain significance |
| rs113479740 | 2:42,557,279 | G/A | — | uncertain significance |
| rs374569024 | 2:42,557,325 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.