EPB41L4A
erythrocyte membrane protein band 4.1 like 4A
Summary
The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]
Known Variants70 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs78455089 | 5:111,478,870 | C/A | coding sequence variant | — |
| rs17134155 | 5:111,481,696 | C/T | splice region variant | — |
| rs73227498 | 5:111,485,904 | A/T | intron variant | — |
| rs751523217 | 5:111,500,719 | T/C | — | likely benign |
| rs1551935 | 5:111,500,751 | G/A | — | benign |
| rs1276822457 | 5:111,500,786 | C/G | — | likely benign |
| rs200449454 | 5:111,500,792 | G/C | — | uncertain significance |
| rs78027176 | 5:111,500,824 | T/C | — | likely benign |
| rs189409879 | 5:111,504,443 | A/C | — | uncertain significance |
| rs1487389376 | 5:111,504,446 | G/T | — | uncertain significance |
| rs757303695 | 5:111,504,451 | A/C | — | uncertain significance |
| rs1368243029 | 5:111,504,486 | C/A | — | uncertain significance |
| rs1247325512 | 5:111,504,509 | G/C | — | uncertain significance |
| rs761882734 | 5:111,504,510 | T/C | — | uncertain significance |
| rs200812889 | 5:111,504,714 | G/C | — | uncertain significance |
| rs756855321 | 5:111,504,740 | C/T | — | uncertain significance |
| rs755935788 | 5:111,504,749 | C/T | — | uncertain significance |
| rs771013845 | 5:111,504,763 | C/T | — | likely benign |
| rs533999192 | 5:111,504,764 | G/A | — | uncertain significance |
| rs545808705 | 5:111,519,734 | C/T | — | uncertain significance |
| rs2531827738 | 5:111,519,749 | T/C | — | uncertain significance |
| rs111958355 | 5:111,519,760 | T/C | — | benign |
| rs764591870 | 5:111,519,812 | A/G | — | uncertain significance |
| rs149373122 | 5:111,531,387 | A/T | — | benign |
| rs371189822 | 5:111,540,118 | G/A | — | uncertain significance |
| rs114541405 | 5:111,540,126 | C/T | — | benign |
| rs367552530 | 5:111,540,136 | A/G | — | uncertain significance |
| rs34106638 | 5:111,540,145 | T/C | — | likely benign |
| rs730882207 | 5:111,540,150 | G/A | missense variant | pathogenic |
| rs1762426949 | 5:111,541,148 | T/G | — | uncertain significance |
| rs778999813 | 5:111,545,646 | A/G | — | uncertain significance |
| rs939642616 | 5:111,570,393 | T/C | — | uncertain significance |
| rs200139281 | 5:111,570,400 | G/A | — | uncertain significance |
| rs376132286 | 5:111,570,402 | C/T | — | uncertain significance |
| rs201510682 | 5:111,570,411 | T/C | — | uncertain significance |
| rs1278593915 | 5:111,570,421 | G/C | — | uncertain significance |
| rs199666804 | 5:111,570,426 | C/T | — | uncertain significance |
| rs374814626 | 5:111,575,375 | C/T | — | uncertain significance |
| rs267600314 | 5:111,575,417 | G/C | — | uncertain significance |
| rs187777656 | 5:111,576,424 | C/T | — | likely benign |
| rs764315961 | 5:111,576,441 | T/C | — | uncertain significance |
| rs368827957 | 5:111,576,500 | T/C | — | uncertain significance |
| rs773626937 | 5:111,594,930 | T/C | — | uncertain significance |
| rs372473511 | 5:111,595,625 | C/T | — | uncertain significance |
| rs200204316 | 5:111,595,630 | A/C | — | uncertain significance |
| rs745918922 | 5:111,595,659 | C/G | — | uncertain significance |
| rs371252858 | 5:111,595,670 | T/C | — | uncertain significance |
| rs766314158 | 5:111,598,196 | C/T | — | uncertain significance |
| rs200939030 | 5:111,598,198 | G/A | — | uncertain significance |
| rs201959084 | 5:111,598,211 | C/T | — | uncertain significance |
| rs61743759 | 5:111,600,618 | T/C | — | benign |
| rs186368402 | 5:111,600,710 | T/G | — | uncertain significance |
| rs185548416 | 5:111,601,984 | G/C | — | uncertain significance |
| rs768944175 | 5:111,601,988 | C/G | — | uncertain significance |
| rs13358904 | 5:111,602,713 | A/C | — | — |
| rs745648092 | 5:111,611,049 | T/C | — | likely benign |
| rs1201453038 | 5:111,611,053 | T/C | — | uncertain significance |
| rs748432941 | 5:111,611,056 | T/G | — | uncertain significance |
| rs144670970 | 5:111,611,059 | G/A | — | likely benign |
| rs777261583 | 5:111,611,089 | T/C | — | uncertain significance |
| rs373479547 | 5:111,615,971 | T/A | — | uncertain significance |
| rs199799127 | 5:111,616,010 | T/C | — | uncertain significance |
| rs1199275682 | 5:111,643,088 | G/C | — | uncertain significance |
| rs766413624 | 5:111,643,100 | C/T | — | uncertain significance |
| rs1027205507 | 5:111,643,103 | A/G | — | uncertain significance |
| rs765087368 | 5:111,643,169 | C/T | — | likely benign |
| rs767723628 | 5:111,643,178 | T/G | — | uncertain significance |
| rs379440 | 5:111,693,371 | T/C | intron variant | — |
| rs199684882 | 5:111,754,696 | T/C | — | uncertain significance |
| rs2532079026 | 5:111,754,706 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.