TUBA4A
tubulin alpha 4a
Summary
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11556349 | 2:220,115,026 | C/T | — | benign |
| rs760451884 | 2:220,115,110 | G/A | — | likely benign |
| rs1574883514 | 2:220,115,155 | A/C | — | likely benign |
| rs199590938 | 2:220,115,164 | G/A | — | likely benign |
| rs2544993085 | 2:220,115,178 | C/T | — | conflicting classifications of pathogenicity |
| rs2544993102 | 2:220,115,191 | A/G | — | likely benign |
| rs1574883555 | 2:220,115,197 | A/G | — | likely benign |
| rs730880027 | 2:220,115,201 | C/T | stop gained | pathogenic |
| rs773161555 | 2:220,115,207 | A/C | — | uncertain significance |
| rs2125069024 | 2:220,115,252 | C/T | — | uncertain significance |
| rs752266046 | 2:220,115,266 | G/A | — | benign |
| rs368743618 | 2:220,115,274 | C/T | missense variant | pathogenic |
| rs373071036 | 2:220,115,275 | G/A | — | likely benign |
| rs757609748 | 2:220,115,278 | C/T | — | likely benign |
| rs1221449097 | 2:220,115,338 | A/G | — | likely benign |
| rs1574883829 | 2:220,115,344 | A/G | — | likely benign |
| rs1574883859 | 2:220,115,374 | T/C | — | likely benign |
| rs763637343 | 2:220,115,396 | T/C | — | uncertain significance |
| rs1574883881 | 2:220,115,398 | A/G | — | likely benign |
| rs1574883884 | 2:220,115,401 | G/A | — | likely benign |
| rs147351423 | 2:220,115,422 | G/A | — | benign |
| rs2544993641 | 2:220,115,425 | A/G | — | likely benign |
| rs2125069184 | 2:220,115,431 | A/G | — | likely benign |
| rs372891488 | 2:220,115,434 | G/A | — | likely benign |
| rs2544993699 | 2:220,115,451 | C/T | — | uncertain significance |
| rs1559275945 | 2:220,115,455 | A/G | — | likely benign |
| rs730880026 | 2:220,115,462 | C/T | missense variant | pathogenic |
| rs730880025 | 2:220,115,463 | G/A | missense variant | pathogenic |
| rs746979509 | 2:220,115,494 | G/A | — | likely benign |
| rs141922502 | 2:220,115,512 | T/C | — | likely benign |
| rs1951634830 | 2:220,115,524 | G/A | — | uncertain significance |
| rs1559276084 | 2:220,115,533 | A/G | — | likely benign |
| rs750882247 | 2:220,115,560 | C/T | — | likely benign |
| rs149475041 | 2:220,115,572 | G/A | — | likely benign |
| rs766703407 | 2:220,115,579 | G/A | — | uncertain significance |
| rs921668715 | 2:220,115,635 | G/C | — | uncertain significance |
| rs199881197 | 2:220,115,694 | G/T | — | uncertain significance |
| rs370939488 | 2:220,115,697 | G/A | — | likely benign |
| rs749141733 | 2:220,115,773 | G/T | — | uncertain significance |
| rs730880028 | 2:220,115,778 | G/A | missense variant | pathogenic |
| rs775821469 | 2:220,115,874 | C/T | — | uncertain significance |
| rs757373635 | 2:220,115,880 | C/T | — | likely benign |
| rs1951641486 | 2:220,115,887 | A/G | — | likely benign |
| rs730880029 | 2:220,115,988 | T/G | missense variant | pathogenic |
| rs372079932 | 2:220,116,013 | C/T | — | likely benign |
| rs199579096 | 2:220,116,338 | A/G | — | benign |
| rs45571337 | 2:220,116,392 | C/T | — | benign |
| rs45488900 | 2:220,116,509 | G/T | — | benign |
| rs376398028 | 2:220,116,773 | G/A | — | likely benign |
| rs768583053 | 2:220,116,826 | C/T | — | uncertain significance |
| rs2125070384 | 2:220,116,873 | T/C | — | uncertain significance |
| rs141429751 | 2:220,116,890 | C/T | — | likely benign |
| rs923338283 | 2:220,116,924 | T/G | — | uncertain significance |
| rs45443991 | 2:220,117,044 | A/G | — | benign |
| rs60500076 | 2:220,117,072 | G/C | — | likely benign |
| rs180948447 | 2:220,117,206 | A/G | — | likely benign |
| rs45576041 | 2:220,117,264 | C/G | — | benign |
| rs1951684727 | 2:220,118,288 | G/C | — | uncertain significance |
| rs45468095 | 2:220,118,480 | A/G | — | likely benign |
| rs939574 | 2:220,118,531 | G/C | — | benign |
| rs529736438 | 2:220,118,755 | G/T | — | likely benign |
| rs2071385 | 2:220,118,782 | T/G | — | benign |
| rs45476301 | 2:220,118,975 | G/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.