UIMC1
ubiquitin interaction motif containing 1
Summary
This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. This protein may also function as a repressor of transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs139673323 | 5:176,332,321 | G/A | — | uncertain significance |
| rs140185789 | 5:176,332,431 | C/T | — | likely benign |
| rs147708784 | 5:176,333,018 | G/C | — | uncertain significance |
| rs564538998 | 5:176,333,033 | G/A | — | uncertain significance |
| rs1452342966 | 5:176,333,042 | T/A | — | uncertain significance |
| rs372804609 | 5:176,334,140 | C/G | — | uncertain significance |
| rs371337363 | 5:176,335,559 | C/G | — | uncertain significance |
| rs142545546 | 5:176,335,565 | T/G | — | uncertain significance |
| rs144604125 | 5:176,335,616 | C/A | — | uncertain significance |
| rs138549370 | 5:176,335,630 | G/C | — | uncertain significance |
| rs1237792672 | 5:176,335,658 | A/C | — | uncertain significance |
| rs766633588 | 5:176,335,696 | C/T | — | likely pathogenic |
| rs2532643596 | 5:176,338,316 | C/T | — | uncertain significance |
| rs1311856146 | 5:176,338,381 | C/T | — | uncertain significance |
| rs11740768 | 5:176,339,499 | G/T | — | — |
| rs2940538 | 5:176,342,681 | T/G | — | — |
| rs201450912 | 5:176,354,207 | G/T | — | — |
| rs539413771 | 5:176,364,236 | G/A | — | — |
| rs756103380 | 5:176,370,416 | G/A | — | uncertain significance |
| rs1055561304 | 5:176,370,430 | G/C | — | uncertain significance |
| rs2532879179 | 5:176,370,464 | T/C | — | uncertain significance |
| rs542312023 | 5:176,372,541 | C/T | — | — |
| rs543818837 | 5:176,375,050 | C/T | — | — |
| rs182189412 | 5:176,375,360 | T/C | intron variant | — |
| rs365132 | 5:176,378,574 | G/T | synonymous variant | benign |
| rs3733876 | 5:176,382,995 | G/A | — | benign |
| rs202227665 | 5:176,385,154 | G/A | — | uncertain significance |
| rs143881567 | 5:176,385,867 | G/A | intron variant | — |
| rs150697112 | 5:176,395,618 | A/G | — | likely benign |
| rs1475353953 | 5:176,395,666 | A/G | — | uncertain significance |
| rs200923725 | 5:176,395,757 | C/A | — | uncertain significance |
| rs375482875 | 5:176,395,852 | C/T | — | uncertain significance |
| rs559106372 | 5:176,395,988 | G/C | — | uncertain significance |
| rs11547756 | 5:176,396,032 | C/T | — | uncertain significance |
| rs1768777461 | 5:176,396,037 | C/A | — | uncertain significance |
| rs200789444 | 5:176,396,085 | G/C | — | uncertain significance |
| rs371276909 | 5:176,396,134 | C/A | — | uncertain significance |
| rs2533090497 | 5:176,396,169 | C/A | — | uncertain significance |
| rs575901662 | 5:176,396,178 | G/A | — | uncertain significance |
| rs199580368 | 5:176,396,261 | A/C | — | uncertain significance |
| rs368561531 | 5:176,396,652 | G/A | — | uncertain significance |
| rs72813116 | 5:176,396,684 | A/G | — | benign |
| rs1479561928 | 5:176,397,805 | C/G | — | uncertain significance |
| rs200300265 | 5:176,397,822 | T/A | — | uncertain significance |
| rs1700490 | 5:176,402,401 | G/A | — | benign |
| rs181457075 | 5:176,405,144 | G/A | intron variant | — |
| rs868328917 | 5:176,409,573 | C/T | — | likely benign |
| rs548830338 | 5:176,409,580 | C/T | — | uncertain significance |
| rs369245879 | 5:176,409,610 | G/A | — | uncertain significance |
| rs353474 | 5:176,425,281 | G/T | — | — |
| rs543032901 | 5:176,430,051 | A/G | — | — |
| rs7726380 | 5:176,434,982 | A/G | — | — |
| rs150879406 | 5:176,437,110 | G/A | upstream gene variant | — |
| rs182513000 | 5:176,437,417 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.