CCHCR1
coiled-coil alpha-helical rod protein 1
Summary
This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017]
Known Variants65 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1576 | 6:31,110,391 | G/A | missense variant | — |
| rs541197251 | 6:31,110,412 | T/C | — | uncertain significance |
| rs148408896 | 6:31,110,415 | T/C | — | uncertain significance |
| rs1313140045 | 6:31,110,880 | C/T | — | likely benign |
| rs112520959 | 6:31,111,076 | C/T | — | uncertain significance |
| rs756823571 | 6:31,111,077 | G/A | — | uncertain significance |
| rs1376257475 | 6:31,111,088 | C/T | — | uncertain significance |
| rs1206034207 | 6:31,111,099 | C/G | — | uncertain significance |
| rs1040589922 | 6:31,111,106 | C/T | — | uncertain significance |
| rs372934272 | 6:31,111,178 | C/T | — | uncertain significance |
| rs9263739 | 6:31,111,356 | C/T | regulatory region variant | — |
| rs1265081 | 6:31,111,675 | C/A | upstream gene variant | — |
| rs772907679 | 6:31,112,506 | C/T | — | uncertain significance |
| rs200316417 | 6:31,112,517 | A/G | — | uncertain significance |
| rs778124748 | 6:31,112,533 | G/C | — | uncertain significance |
| rs756252094 | 6:31,112,668 | C/G | — | likely benign |
| rs142986308 | 6:31,112,701 | G/A | missense variant | — |
| rs130079 | 6:31,112,737 | C/A | — | benign |
| rs147152245 | 6:31,112,743 | G/A | — | uncertain significance |
| rs2073719 | 6:31,112,925 | C/T | downstream gene variant | — |
| rs188955569 | 6:31,112,982 | G/A | — | uncertain significance |
| rs201259956 | 6:31,113,026 | C/T | — | uncertain significance |
| rs766219573 | 6:31,113,247 | G/A | — | uncertain significance |
| rs886401 | 6:31,113,275 | A/G | splice region variant | — |
| rs886400 | 6:31,113,276 | G/A | splice region variant | — |
| rs767899213 | 6:31,113,511 | C/T | — | uncertain significance |
| rs756404583 | 6:31,113,514 | T/C | — | likely benign |
| rs746647 | 6:31,114,182 | A/G | intron variant | — |
| rs2240062 | 6:31,114,762 | A/G | intron variant | — |
| rs2240060 | 6:31,114,900 | A/T | — | — |
| rs130071 | 6:31,116,210 | G/A | synonymous variant | — |
| rs1450123525 | 6:31,116,224 | G/A | — | uncertain significance |
| rs767616982 | 6:31,116,427 | C/T | — | uncertain significance |
| rs1382001260 | 6:31,116,430 | C/A | — | uncertain significance |
| rs767157475 | 6:31,116,448 | G/C | — | uncertain significance |
| rs3132535 | 6:31,116,526 | A/T | — | — |
| rs3131014 | 6:31,116,627 | G/A | intron variant | — |
| rs2022084 | 6:31,117,053 | A/T | — | — |
| rs2532780951 | 6:31,117,874 | T/A | — | uncertain significance |
| rs749792784 | 6:31,117,913 | A/G | — | uncertain significance |
| rs1265112 | 6:31,118,019 | T/C | intron variant | — |
| rs1448732613 | 6:31,118,242 | A/G | — | uncertain significance |
| rs130067 | 6:31,118,511 | T/G | missense variant | — |
| rs377127124 | 6:31,118,527 | C/T | — | uncertain significance |
| rs763627909 | 6:31,118,748 | C/T | — | likely benign |
| rs1265108 | 6:31,119,869 | C/T | intron variant | — |
| rs9263773 | 6:31,120,240 | T/G | — | — |
| rs111837807 | 6:31,121,232 | T/C | intron variant | — |
| rs143334143 | 6:31,121,426 | G/A | upstream gene variant | — |
| rs2073717 | 6:31,122,126 | G/A | — | — |
| rs775729701 | 6:31,122,374 | C/A | — | uncertain significance |
| rs149246433 | 6:31,122,403 | G/A | — | uncertain significance |
| rs764965964 | 6:31,122,406 | C/T | — | likely benign |
| rs11961407 | 6:31,122,407 | G/A | — | benign |
| rs1169682251 | 6:31,122,470 | C/T | — | uncertain significance |
| rs130076 | 6:31,122,482 | G/A | — | benign |
| rs2532958511 | 6:31,122,492 | C/A | — | uncertain significance |
| rs130065 | 6:31,122,500 | G/A | — | benign |
| rs1053876667 | 6:31,122,524 | C/T | — | uncertain significance |
| rs2073716 | 6:31,122,997 | C/G | upstream gene variant | — |
| rs145216618 | 6:31,124,551 | G/A | — | uncertain significance |
| rs774286953 | 6:31,124,590 | G/C | — | uncertain significance |
| rs774483241 | 6:31,124,716 | T/G | — | uncertain significance |
| rs1349357046 | 6:31,124,854 | C/A | — | uncertain significance |
| rs2533050700 | 6:31,124,856 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.