SH3YL1
SH3 and SYLF domain containing 1
Summary
Enables phosphatase binding activity and phosphatidylinositol binding activity. Predicted to be involved in regulation of ruffle assembly. Predicted to act upstream of or within phosphatidylinositol biosynthetic process. Located in ruffle membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs374187755 | 2:218,888 | A/G | — | uncertain significance |
| rs889971539 | 2:218,902 | A/G | — | uncertain significance |
| rs746898791 | 2:218,971 | G/A | — | uncertain significance |
| rs747876372 | 2:218,982 | T/C | — | uncertain significance |
| rs2527619724 | 2:218,984 | T/C | — | uncertain significance |
| rs7601944 | 2:229,456 | A/G | intron variant | — |
| rs943671547 | 2:230,011 | G/A | — | uncertain significance |
| rs138447525 | 2:230,540 | G/T | intron variant | — |
| rs768682051 | 2:231,066 | C/T | — | uncertain significance |
| rs368606057 | 2:231,115 | A/G | — | uncertain significance |
| rs372248085 | 2:231,124 | C/T | — | uncertain significance |
| rs968837112 | 2:231,127 | C/T | — | uncertain significance |
| rs1439675896 | 2:231,136 | G/T | — | uncertain significance |
| rs780315175 | 2:231,138 | C/T | — | uncertain significance |
| rs560342993 | 2:231,139 | G/A | — | uncertain significance |
| rs200222754 | 2:231,144 | G/A | — | likely benign |
| rs549275200 | 2:231,161 | G/T | — | uncertain significance |
| rs143830339 | 2:233,182 | G/A | — | uncertain significance |
| rs1668126350 | 2:233,183 | T/G | — | uncertain significance |
| rs373205095 | 2:233,213 | C/A | — | uncertain significance |
| rs752152652 | 2:233,215 | T/G | — | uncertain significance |
| rs377422969 | 2:233,229 | C/A | — | uncertain significance |
| rs531408074 | 2:234,197 | C/T | — | uncertain significance |
| rs761115105 | 2:234,239 | G/A | — | uncertain significance |
| rs6710091 | 2:239,597 | C/G | intron variant | — |
| rs17713568 | 2:242,132 | G/A | intron variant | — |
| rs62114505 | 2:242,426 | A/G | intron variant | — |
| rs774447403 | 2:247,601 | T/G | — | uncertain significance |
| rs377095701 | 2:249,748 | G/A | — | uncertain significance |
| rs780119435 | 2:249,839 | C/T | — | uncertain significance |
| rs1249929440 | 2:253,013 | A/T | — | uncertain significance |
| rs777878451 | 2:253,112 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.