CSAD
cysteine sulfinic acid decarboxylase
Summary
This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150011882 | 12:53,552,314 | C/T | — | uncertain significance |
| rs1938827495 | 12:53,552,330 | G/A | — | uncertain significance |
| rs377511943 | 12:53,552,333 | G/A | — | uncertain significance |
| rs201988379 | 12:53,552,336 | A/T | — | uncertain significance |
| rs769957361 | 12:53,552,372 | C/G | — | uncertain significance |
| rs2539748069 | 12:53,552,432 | C/T | — | uncertain significance |
| rs763193115 | 12:53,552,452 | T/C | — | uncertain significance |
| rs192115010 | 12:53,552,458 | A/C | — | uncertain significance |
| rs1314923882 | 12:53,553,409 | T/C | — | uncertain significance |
| rs140401098 | 12:53,553,459 | G/C | — | uncertain significance |
| rs202171737 | 12:53,553,460 | G/T | — | uncertain significance |
| rs200919847 | 12:53,553,463 | G/A | — | uncertain significance |
| rs371460158 | 12:53,553,465 | A/T | — | uncertain significance |
| rs745653871 | 12:53,553,722 | C/T | — | likely benign |
| rs746587061 | 12:53,553,931 | C/T | — | uncertain significance |
| rs759865620 | 12:53,554,084 | T/C | — | uncertain significance |
| rs368428943 | 12:53,554,090 | C/T | — | uncertain significance |
| rs2272306 | 12:53,554,283 | G/A | intron variant | — |
| rs199603070 | 12:53,554,548 | G/A | — | uncertain significance |
| rs1229585002 | 12:53,554,606 | G/T | — | uncertain significance |
| rs139395448 | 12:53,563,867 | C/T | — | uncertain significance |
| rs2539818067 | 12:53,564,214 | C/G | — | uncertain significance |
| rs80280748 | 12:53,564,257 | C/T | — | benign |
| rs140068701 | 12:53,565,711 | G/A | — | uncertain significance |
| rs2539834980 | 12:53,566,140 | T/C | — | uncertain significance |
| rs57871710 | 12:53,566,165 | G/A | — | benign |
| rs149264090 | 12:53,566,174 | A/T | missense variant | — |
| rs758632278 | 12:53,566,220 | C/T | — | uncertain significance |
| rs149093823 | 12:53,566,361 | T/C | — | likely benign |
| rs148549862 | 12:53,566,409 | C/T | — | benign |
| rs760980087 | 12:53,567,178 | C/G | — | uncertain significance |
| rs753181831 | 12:53,567,553 | T/C | — | uncertain significance |
| rs199626180 | 12:53,573,586 | T/C | — | uncertain significance |
| rs59218377 | 12:53,574,631 | A/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.