PIR
pirin
Summary
This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs200265489 | X:15,403,152 | T/A | — | uncertain significance |
| rs75378219 | X:15,408,373 | C/T | — | benign |
| rs143438383 | X:15,414,383 | G/A | intron variant | — |
| rs34104000 | X:15,415,581 | A/G | — | benign |
| rs1010665693 | X:15,415,648 | C/T | — | uncertain significance |
| rs5935970 | X:15,433,536 | T/C | intron variant | — |
| rs192812042 | X:15,436,623 | G/A | regulatory region variant | — |
| rs234497 | X:15,442,784 | G/C | — | — |
| rs234500 | X:15,458,823 | G/A | — | — |
| rs234502 | X:15,463,721 | T/C | intron variant | — |
| rs2519457360 | X:15,473,974 | T/C | — | uncertain significance |
| rs777036326 | X:15,474,018 | C/T | — | uncertain significance |
| rs1376925618 | X:15,474,027 | G/A | — | uncertain significance |
| rs1349318268 | X:15,474,053 | T/C | — | uncertain significance |
| rs35715407 | X:15,474,134 | C/A | — | benign |
| rs138504766 | X:15,474,162 | G/A | — | benign |
| rs2519462555 | X:15,477,788 | C/T | — | uncertain significance |
| rs925653 | X:15,509,029 | A/G | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.