KLHL20
kelch like family member 20
Summary
The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs553962694 | 1:173,687,060 | A/G | — | — |
| rs201760354 | 1:173,699,589 | T/G | — | — |
| rs149944512 | 1:173,702,854 | G/T | — | uncertain significance |
| rs768943719 | 1:173,702,866 | G/T | — | uncertain significance |
| rs1327246835 | 1:173,703,070 | C/G | — | uncertain significance |
| rs2525380409 | 1:173,703,328 | C/T | — | uncertain significance |
| rs762910208 | 1:173,720,961 | C/T | — | uncertain significance |
| rs143294890 | 1:173,721,013 | G/T | — | uncertain significance |
| rs2525451352 | 1:173,721,050 | C/A | — | uncertain significance |
| rs1673391050 | 1:173,722,383 | G/C | — | uncertain significance |
| rs2525470752 | 1:173,726,118 | G/A | — | conflicting classifications of pathogenicity |
| rs1673582111 | 1:173,726,216 | G/A | — | pathogenic |
| rs2525471560 | 1:173,726,247 | T/C | — | uncertain significance |
| rs760880033 | 1:173,735,364 | C/G | — | uncertain significance |
| rs754139630 | 1:173,735,375 | T/G | — | uncertain significance |
| rs77154778 | 1:173,741,071 | G/A | intron variant | — |
| rs149997590 | 1:173,743,488 | G/A | — | uncertain significance |
| rs2525538388 | 1:173,743,503 | G/A | — | uncertain significance |
| rs147125826 | 1:173,744,820 | A/G | — | uncertain significance |
| rs2525578833 | 1:173,754,311 | G/A | — | uncertain significance |
| rs1374214276 | 1:173,754,356 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.