GRXCR2
glutaredoxin and cysteine rich domain containing 2
Summary
This gene encodes a protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic sensorineural deafness-101. [provided by RefSeq, Jun 2014]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs455117 | 5:145,239,004 | G/A | — | benign |
| rs432793 | 5:145,239,119 | C/G | — | benign |
| rs72816449 | 5:145,239,283 | C/G | — | benign |
| rs761960449 | 5:145,239,293 | G/A | — | likely benign |
| rs757758226 | 5:145,239,301 | G/T | — | uncertain significance |
| rs747211639 | 5:145,239,333 | T/A | — | uncertain significance |
| rs774832434 | 5:145,239,364 | A/G | — | uncertain significance |
| rs760282045 | 5:145,239,367 | A/G | — | uncertain significance |
| rs763644996 | 5:145,239,376 | A/G | — | uncertain significance |
| rs576525485 | 5:145,239,380 | G/C | — | uncertain significance |
| rs199737180 | 5:145,239,406 | C/T | — | uncertain significance |
| rs781265525 | 5:145,239,407 | G/A | — | uncertain significance |
| rs770653814 | 5:145,239,417 | G/A | — | uncertain significance |
| rs139847108 | 5:145,239,434 | C/G | — | likely benign |
| rs367826984 | 5:145,239,463 | C/T | — | uncertain significance |
| rs115520168 | 5:145,239,464 | G/A | — | benign |
| rs779793231 | 5:145,239,488 | A/G | — | likely benign |
| rs753281643 | 5:145,243,125 | A/C | — | — |
| rs2569007 | 5:145,245,749 | T/A | — | benign |
| rs17423559 | 5:145,245,962 | C/G | — | benign |
| rs1409804209 | 5:145,246,053 | C/T | — | likely benign |
| rs546249529 | 5:145,246,058 | A/G | — | likely benign |
| rs559768717 | 5:145,246,059 | C/T | — | uncertain significance |
| rs771151044 | 5:145,246,069 | T/C | — | uncertain significance |
| rs761305184 | 5:145,246,071 | T/C | — | uncertain significance |
| rs767999715 | 5:145,246,075 | G/A | — | uncertain significance |
| rs2569006 | 5:145,246,085 | G/T | — | benign |
| rs1255938989 | 5:145,246,107 | A/G | — | uncertain significance |
| rs754874283 | 5:145,246,117 | C/T | — | uncertain significance |
| rs114615413 | 5:145,246,118 | G/A | — | benign |
| rs1756441567 | 5:145,246,165 | C/A | — | pathogenic |
| rs761197305 | 5:145,246,179 | T/G | — | uncertain significance |
| rs144617184 | 5:145,246,202 | C/T | — | likely benign |
| rs745536409 | 5:145,246,244 | G/T | — | uncertain significance |
| rs201457352 | 5:145,246,311 | G/A | — | benign |
| rs116650855 | 5:145,246,571 | T/C | — | benign |
| rs200430935 | 5:145,252,208 | C/T | — | likely benign |
| rs773457218 | 5:145,252,209 | G/A | — | pathogenic |
| rs202201665 | 5:145,252,227 | C/T | — | likely benign |
| rs776586044 | 5:145,252,228 | G/A | — | uncertain significance |
| rs71594518 | 5:145,252,239 | T/C | — | benign |
| rs141629319 | 5:145,252,240 | C/A | — | uncertain significance |
| rs1013263575 | 5:145,252,244 | C/G | — | uncertain significance |
| rs756547626 | 5:145,252,255 | C/A | — | uncertain significance |
| rs1284913994 | 5:145,252,272 | A/C | — | uncertain significance |
| rs2532249856 | 5:145,252,273 | C/T | — | uncertain significance |
| rs151087704 | 5:145,252,312 | G/C | — | conflicting classifications of pathogenicity |
| rs756569692 | 5:145,252,316 | C/T | — | likely benign |
| rs1554104484 | 5:145,252,321 | G/T | — | uncertain significance |
| rs757365290 | 5:145,252,339 | A/C | — | uncertain significance |
| rs76180713 | 5:145,252,350 | A/G | — | uncertain significance |
| rs71594519 | 5:145,252,360 | G/A | — | uncertain significance |
| rs150272088 | 5:145,252,372 | G/A | — | likely benign |
| rs34892428 | 5:145,252,377 | C/T | — | benign |
| rs140816500 | 5:145,252,378 | T/C | — | uncertain significance |
| rs144585004 | 5:145,252,388 | T/C | — | likely benign |
| rs1178550682 | 5:145,252,400 | T/G | — | likely benign |
| rs56111048 | 5:145,252,404 | T/C | — | likely benign |
| rs769527093 | 5:145,252,413 | T/C | — | uncertain significance |
| rs770833599 | 5:145,252,432 | G/A | — | pathogenic |
| rs199705611 | 5:145,252,447 | C/T | — | uncertain significance |
| rs141618183 | 5:145,252,448 | G/A | — | likely benign |
| rs376954314 | 5:145,252,484 | G/C | — | likely benign |
| rs2532250791 | 5:145,252,486 | G/A | — | uncertain significance |
| rs148032782 | 5:145,252,496 | A/G | — | likely benign |
| rs10037373 | 5:145,252,574 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.