KALRN
kalirin RhoGEF kinase
Summary
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]
Known Variants109 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9289231 | 3:123,774,078 | T/G | intergenic variant | benign |
| rs13067260 | 3:123,824,461 | T/A | — | — |
| rs7630133 | 3:123,923,288 | G/A | intron variant | — |
| rs1444768 | 3:123,923,922 | G/A | intron variant | — |
| rs6438833 | 3:123,925,595 | T/A | intron variant | — |
| rs1444754 | 3:123,938,217 | C/G | — | — |
| rs2293641 | 3:123,946,895 | G/A | — | benign |
| rs17286604 | 3:123,952,217 | C/T | intron variant | — |
| rs4234218 | 3:123,961,210 | G/T | — | — |
| rs11712039 | 3:123,973,586 | C/G | — | — |
| rs34266187 | 3:123,975,301 | G/A | intron variant | — |
| rs145330536 | 3:123,987,955 | T/C | — | likely benign |
| rs146360002 | 3:123,988,027 | C/T | — | likely benign |
| rs2272486 | 3:123,988,039 | T/C | — | benign |
| rs141669436 | 3:124,009,040 | A/G | intron variant | — |
| rs11712619 | 3:124,019,802 | C/T | intron variant | — |
| rs565397907 | 3:124,032,854 | C/T | — | — |
| rs200722793 | 3:124,044,839 | A/T | — | uncertain significance |
| rs16835275 | 3:124,044,859 | T/C | — | likely benign |
| rs2289778 | 3:124,044,949 | T/C | — | benign |
| rs7620580 | 3:124,045,303 | G/A | intron variant | — |
| rs2276740 | 3:124,048,764 | T/C | — | benign |
| rs772953649 | 3:124,048,776 | C/T | — | likely benign |
| rs1056310843 | 3:124,053,319 | G/A | — | benign |
| rs9841322 | 3:124,114,068 | G/A | — | benign |
| rs72978468 | 3:124,114,083 | G/A | — | benign |
| rs145790621 | 3:124,117,549 | C/T | — | uncertain significance |
| rs759820743 | 3:124,117,715 | C/T | — | likely benign |
| rs776142699 | 3:124,141,821 | A/G | — | uncertain significance |
| rs2486305582 | 3:124,153,221 | A/C | — | likely benign |
| rs548099484 | 3:124,153,288 | C/T | — | likely benign |
| rs144113221 | 3:124,153,291 | C/T | — | likely benign |
| rs1375566941 | 3:124,155,408 | G/A | — | — |
| rs2093468087 | 3:124,155,425 | T/A | — | — |
| rs2289837 | 3:124,157,806 | G/A | — | benign |
| rs2472477993 | 3:124,165,062 | T/C | — | uncertain significance |
| rs77701768 | 3:124,165,606 | A/T | — | benign |
| rs148828057 | 3:124,174,121 | C/A | — | uncertain significance |
| rs2059332346 | 3:124,175,510 | G/C | — | uncertain significance |
| rs770766778 | 3:124,175,525 | C/T | — | likely benign |
| rs2289843 | 3:124,196,094 | A/T | — | benign |
| rs2473787628 | 3:124,207,121 | C/G | — | uncertain significance |
| rs139928910 | 3:124,209,608 | G/A | — | likely benign |
| rs140147759 | 3:124,246,492 | A/C | intron variant | — |
| rs186739814 | 3:124,281,690 | C/T | — | likely benign |
| rs776744233 | 3:124,281,801 | G/A | — | uncertain significance |
| rs202002851 | 3:124,281,829 | C/A | — | likely benign |
| rs78202770 | 3:124,281,844 | C/A | — | benign |
| rs775653956 | 3:124,281,856 | G/T | — | uncertain significance |
| rs201338676 | 3:124,281,903 | G/A | — | uncertain significance |
| rs377555886 | 3:124,281,927 | T/A | — | uncertain significance |
| rs2333024 | 3:124,292,883 | G/T | intron variant | — |
| rs6765865 | 3:124,298,006 | C/G | intron variant | — |
| rs2010099 | 3:124,300,257 | C/T | intron variant | — |
| rs68033978 | 3:124,301,620 | G/T | — | — |
| rs73191618 | 3:124,301,840 | G/T | — | — |
| rs56407180 | 3:124,303,696 | C/T | — | likely benign |
| rs3863066 | 3:124,304,348 | G/C | — | — |
| rs73191624 | 3:124,308,208 | C/T | intron variant | — |
| rs67889059 | 3:124,309,249 | G/T | intron variant | — |
| rs2713662 | 3:124,310,210 | T/C | intron variant | — |
| rs35910945 | 3:124,317,743 | G/C | intron variant | — |
| rs10512626 | 3:124,320,213 | G/C | regulatory region variant | — |
| rs13067286 | 3:124,340,093 | G/A | intron variant | — |
| rs10512627 | 3:124,340,222 | G/A | — | — |
| rs7616881 | 3:124,341,152 | T/G | intron variant | — |
| rs650571 | 3:124,344,379 | A/G | intron variant | — |
| rs56688610 | 3:124,347,459 | G/C | — | — |
| rs1708303 | 3:124,351,316 | G/A | synonymous variant | benign |
| rs1660038 | 3:124,351,424 | T/G | — | likely benign |
| rs652863 | 3:124,352,728 | G/A | — | benign |
| rs55915606 | 3:124,352,758 | A/T | — | benign |
| rs34157843 | 3:124,356,082 | G/A | — | likely benign |
| rs116780710 | 3:124,356,147 | G/A | — | likely benign |
| rs200290041 | 3:124,361,652 | C/G | — | — |
| rs76445378 | 3:124,366,890 | C/T | intron variant | — |
| rs2291988 | 3:124,369,650 | T/C | — | benign |
| rs12106716 | 3:124,369,744 | C/T | — | benign |
| rs35298864 | 3:124,369,782 | G/T | — | benign |
| rs115886457 | 3:124,376,650 | C/T | — | benign |
| rs106520 | 3:124,376,653 | G/A | — | benign |
| rs116515655 | 3:124,377,298 | C/T | — | benign |
| rs144160219 | 3:124,377,324 | G/A | — | likely benign |
| rs56106611 | 3:124,377,326 | T/G | — | benign |
| rs61745758 | 3:124,377,337 | C/T | — | benign |
| rs150581055 | 3:124,377,352 | C/T | — | benign |
| rs333289 | 3:124,379,817 | T/C | — | benign |
| rs769380451 | 3:124,379,868 | A/G | — | uncertain significance |
| rs144745311 | 3:124,385,392 | G/A | — | uncertain significance |
| rs747043605 | 3:124,386,016 | G/A | — | uncertain significance |
| rs10512629 | 3:124,387,410 | A/T | intron variant | — |
| rs753999093 | 3:124,390,618 | C/T | — | likely benign |
| rs2480236601 | 3:124,390,721 | T/C | — | likely benign |
| rs769328981 | 3:124,390,733 | C/G | — | uncertain significance |
| rs142947301 | 3:124,390,734 | G/A | — | likely benign |
| rs768645351 | 3:124,393,324 | C/T | — | likely benign |
| rs992438028 | 3:124,393,442 | A/G | — | benign |
| rs759771956 | 3:124,397,079 | G/A | — | likely benign |
| rs333282 | 3:124,413,219 | C/T | — | benign |
| rs754646887 | 3:124,413,303 | C/T | — | likely benign |
Showing 100 of 109 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.