EPB41L3
erythrocyte membrane protein band 4.1 like 3
Summary
Predicted to enable cytoskeletal protein-membrane anchor activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in several processes, including nervous system development; paranodal junction maintenance; and protein localization to axon. Located in several cellular components, including cell-cell junction; ciliary basal body; and cytosol. Implicated in esophagus squamous cell carcinoma. Biomarker of meningioma. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1265305117 | 18:5,394,745 | C/T | — | uncertain significance |
| rs2073054637 | 18:5,394,753 | G/T | — | uncertain significance |
| rs1418880435 | 18:5,395,654 | A/T | — | uncertain significance |
| rs1300561636 | 18:5,395,657 | G/C | — | uncertain significance |
| rs149824211 | 18:5,395,677 | G/T | — | likely benign |
| rs748976507 | 18:5,395,684 | T/G | — | uncertain significance |
| rs145834920 | 18:5,395,703 | C/T | — | uncertain significance |
| rs2510216256 | 18:5,397,064 | T/C | — | uncertain significance |
| rs1227242718 | 18:5,397,073 | T/C | — | uncertain significance |
| rs200496501 | 18:5,397,092 | T/C | — | likely benign |
| rs146075320 | 18:5,397,128 | G/A | — | benign |
| rs372185496 | 18:5,397,139 | G/T | — | uncertain significance |
| rs533462490 | 18:5,397,160 | A/G | — | uncertain significance |
| rs367962784 | 18:5,397,181 | C/T | — | uncertain significance |
| rs142853345 | 18:5,397,205 | G/A | — | uncertain significance |
| rs750816947 | 18:5,397,277 | G/A | — | likely benign |
| rs1388202221 | 18:5,397,286 | G/A | — | uncertain significance |
| rs148568579 | 18:5,397,296 | C/T | — | uncertain significance |
| rs8096452 | 18:5,397,323 | C/G | — | likely benign |
| rs116459026 | 18:5,397,404 | A/C | — | benign |
| rs996237680 | 18:5,397,406 | T/C | — | uncertain significance |
| rs202241333 | 18:5,398,049 | C/A | — | uncertain significance |
| rs528813862 | 18:5,398,089 | T/A | — | uncertain significance |
| rs749681778 | 18:5,398,096 | A/G | — | uncertain significance |
| rs139078158 | 18:5,406,784 | G/A | — | uncertain significance |
| rs147295760 | 18:5,406,848 | A/C | — | benign |
| rs1293929028 | 18:5,406,858 | T/G | — | uncertain significance |
| rs1336516679 | 18:5,406,886 | T/C | — | uncertain significance |
| rs576670651 | 18:5,406,918 | C/T | — | uncertain significance |
| rs201553363 | 18:5,410,594 | C/T | — | uncertain significance |
| rs758517478 | 18:5,415,839 | G/A | — | uncertain significance |
| rs140386239 | 18:5,415,845 | T/C | — | benign |
| rs770912685 | 18:5,415,872 | G/A | — | uncertain significance |
| rs201249884 | 18:5,415,927 | C/A | — | uncertain significance |
| rs2076757552 | 18:5,415,983 | G/A | — | uncertain significance |
| rs150101312 | 18:5,416,002 | G/A | — | uncertain significance |
| rs1314452945 | 18:5,416,003 | G/C | — | uncertain significance |
| rs141321874 | 18:5,416,007 | G/A | — | uncertain significance |
| rs529981219 | 18:5,416,055 | T/G | — | uncertain significance |
| rs1568059965 | 18:5,416,082 | T/C | — | uncertain significance |
| rs755355008 | 18:5,416,087 | G/A | — | likely benign |
| rs780756917 | 18:5,416,209 | C/G | — | uncertain significance |
| rs111274175 | 18:5,416,318 | G/A | — | benign |
| rs374487187 | 18:5,416,331 | G/A | — | uncertain significance |
| rs564665638 | 18:5,416,355 | G/A | — | uncertain significance |
| rs117538203 | 18:5,419,723 | C/T | — | likely benign |
| rs769159490 | 18:5,419,732 | G/A | — | uncertain significance |
| rs1410237213 | 18:5,419,772 | C/G | — | uncertain significance |
| rs747269632 | 18:5,419,801 | T/C | — | uncertain significance |
| rs2510118475 | 18:5,419,819 | G/T | — | uncertain significance |
| rs935184617 | 18:5,424,301 | G/T | — | uncertain significance |
| rs1194372589 | 18:5,433,948 | T/C | — | uncertain significance |
| rs778271797 | 18:5,434,080 | C/T | — | uncertain significance |
| rs2510306308 | 18:5,434,118 | T/G | — | uncertain significance |
| rs1418806113 | 18:5,443,858 | C/G | — | uncertain significance |
| rs2510655203 | 18:5,445,145 | G/C | — | uncertain significance |
| rs201907753 | 18:5,445,164 | G/A | — | uncertain significance |
| rs372730881 | 18:5,445,240 | G/A | — | uncertain significance |
| rs746460874 | 18:5,478,356 | G/C | — | uncertain significance |
| rs61735458 | 18:5,489,076 | G/T | — | benign |
| rs370004609 | 18:5,489,122 | C/T | — | uncertain significance |
| rs1539809 | 18:5,529,675 | C/G | — | — |
| rs145873450 | 18:5,547,712 | G/A | upstream gene variant | — |
| rs138519168 | 18:5,558,462 | G/T | upstream gene variant | — |
| rs1719934 | 18:5,585,158 | A/G | regulatory region variant | — |
| rs1719935 | 18:5,586,542 | A/G | intron variant | — |
| rs9962915 | 18:5,593,171 | C/T | intron variant | — |
| rs1719983 | 18:5,596,822 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.