CSRNP1
cysteine and serine rich nuclear protein 1
Summary
This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2039437835 | 3:39,184,631 | G/A | — | uncertain significance |
| rs868231312 | 3:39,184,632 | G/A | — | uncertain significance |
| rs754593845 | 3:39,184,705 | G/T | — | uncertain significance |
| rs147162469 | 3:39,184,884 | G/A | — | likely benign |
| rs755131354 | 3:39,184,886 | C/T | — | uncertain significance |
| rs375066775 | 3:39,184,964 | G/A | — | uncertain significance |
| rs868216305 | 3:39,184,994 | G/A | — | uncertain significance |
| rs201626609 | 3:39,185,034 | T/G | — | uncertain significance |
| rs2471463067 | 3:39,185,058 | G/A | — | uncertain significance |
| rs564965786 | 3:39,185,076 | C/A | — | uncertain significance |
| rs200794258 | 3:39,185,138 | C/T | — | uncertain significance |
| rs372981794 | 3:39,185,139 | G/A | — | uncertain significance |
| rs141310941 | 3:39,185,151 | C/T | — | uncertain significance |
| rs769413886 | 3:39,185,166 | G/A | — | uncertain significance |
| rs201834210 | 3:39,185,201 | G/A | — | uncertain significance |
| rs1265818015 | 3:39,185,252 | G/C | — | uncertain significance |
| rs2471463919 | 3:39,185,291 | T/A | — | uncertain significance |
| rs2471463927 | 3:39,185,292 | C/T | — | uncertain significance |
| rs747675173 | 3:39,185,397 | C/T | — | uncertain significance |
| rs151312697 | 3:39,185,424 | T/C | — | uncertain significance |
| rs188709083 | 3:39,185,474 | C/T | — | uncertain significance |
| rs768039738 | 3:39,185,516 | G/T | — | uncertain significance |
| rs1434620743 | 3:39,185,517 | G/T | — | uncertain significance |
| rs375810664 | 3:39,185,525 | G/A | — | uncertain significance |
| rs750030169 | 3:39,185,750 | C/G | — | uncertain significance |
| rs375176179 | 3:39,185,795 | G/A | — | uncertain significance |
| rs560006152 | 3:39,185,822 | C/A | — | uncertain significance |
| rs751294413 | 3:39,185,828 | C/T | — | uncertain significance |
| rs2471465721 | 3:39,185,942 | G/C | — | uncertain significance |
| rs2039485471 | 3:39,186,521 | C/A | — | uncertain significance |
| rs150622788 | 3:39,186,526 | G/A | — | uncertain significance |
| rs374212431 | 3:39,186,532 | G/A | — | uncertain significance |
| rs200798768 | 3:39,186,588 | C/T | — | likely benign |
| rs372028126 | 3:39,186,589 | G/A | — | uncertain significance |
| rs79896317 | 3:39,186,636 | C/T | — | uncertain significance |
| rs760808464 | 3:39,186,705 | C/T | — | uncertain significance |
| rs2471467999 | 3:39,186,708 | C/G | — | uncertain significance |
| rs375727374 | 3:39,186,714 | C/T | — | uncertain significance |
| rs780574067 | 3:39,186,723 | C/A | — | uncertain significance |
| rs186954725 | 3:39,186,729 | C/T | — | uncertain significance |
| rs2039492392 | 3:39,186,744 | A/G | — | uncertain significance |
| rs13084317 | 3:39,187,858 | G/A | intron variant | — |
| rs1212772457 | 3:39,187,971 | G/A | — | uncertain significance |
| rs1426308440 | 3:39,188,011 | G/T | — | uncertain significance |
| rs2471470091 | 3:39,188,047 | A/G | — | uncertain significance |
| rs142952358 | 3:39,188,082 | C/G | — | uncertain significance |
| rs368541138 | 3:39,188,100 | G/T | — | uncertain significance |
| rs759995863 | 3:39,188,121 | G/A | — | likely benign |
| rs1274963 | 3:39,191,029 | A/G | regulatory region variant | — |
| rs784504 | 3:39,195,260 | G/A | — | — |
| rs784503 | 3:39,197,731 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.