TMCC1
transmembrane and coiled-coil domain family 1
Summary
Enables identical protein binding activity. Involved in several processes, including endosome fission; endosome membrane tubulation; and membrane fission. Located in cytosol; endoplasmic reticulum-endosome membrane contact site; and rough endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3821917 | 3:129,370,346 | C/G | — | uncertain significance |
| rs749645737 | 3:129,370,368 | C/T | — | uncertain significance |
| rs200815028 | 3:129,370,636 | C/G | — | uncertain significance |
| rs368370907 | 3:129,389,275 | C/T | — | uncertain significance |
| rs765853995 | 3:129,389,282 | C/T | — | uncertain significance |
| rs2533535175 | 3:129,389,297 | G/C | — | uncertain significance |
| rs2533535412 | 3:129,389,308 | A/G | — | uncertain significance |
| rs148011506 | 3:129,389,363 | C/T | — | uncertain significance |
| rs749974935 | 3:129,389,738 | G/A | — | uncertain significance |
| rs931128673 | 3:129,389,915 | C/T | — | uncertain significance |
| rs138263570 | 3:129,389,920 | C/T | — | uncertain significance |
| rs1271455703 | 3:129,390,102 | T/G | — | uncertain significance |
| rs551148158 | 3:129,537,319 | A/T | — | — |
| rs784689 | 3:129,546,729 | T/C | — | benign |
| rs371055518 | 3:129,546,776 | A/G | — | uncertain significance |
| rs2473005380 | 3:129,546,885 | G/A | — | uncertain significance |
| rs2058742388 | 3:129,547,036 | C/A | — | uncertain significance |
| rs371717727 | 3:129,547,158 | C/T | — | uncertain significance |
| rs772705375 | 3:129,547,215 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.