SH3BP4
SH3 domain binding protein 4
Summary
This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]
Known Variants74 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11676855 | 2:235,900,171 | T/C | regulatory region variant | — |
| rs60360195 | 2:235,937,268 | A/C | — | — |
| rs201684842 | 2:235,943,652 | G/A | — | likely benign |
| rs146589231 | 2:235,943,666 | G/A | — | uncertain significance |
| rs1271428748 | 2:235,943,668 | G/A | — | uncertain significance |
| rs763277193 | 2:235,943,672 | C/T | — | uncertain significance |
| rs200491683 | 2:235,943,675 | A/G | — | uncertain significance |
| rs553865942 | 2:235,943,681 | A/G | — | likely benign |
| rs758723395 | 2:235,949,541 | C/A | — | uncertain significance |
| rs201801979 | 2:235,949,563 | C/A | — | uncertain significance |
| rs750013467 | 2:235,949,570 | C/T | — | uncertain significance |
| rs148473816 | 2:235,949,575 | C/T | — | likely benign |
| rs761650383 | 2:235,949,612 | T/A | — | uncertain significance |
| rs2470325092 | 2:235,949,863 | A/T | — | uncertain significance |
| rs758998272 | 2:235,949,868 | C/T | — | uncertain significance |
| rs112059750 | 2:235,949,918 | C/G | — | uncertain significance |
| rs746832385 | 2:235,949,942 | G/A | — | uncertain significance |
| rs113090388 | 2:235,949,945 | A/T | — | uncertain significance |
| rs369629149 | 2:235,949,984 | G/A | — | uncertain significance |
| rs1207634033 | 2:235,950,008 | A/C | — | uncertain significance |
| rs773831909 | 2:235,950,075 | C/T | — | uncertain significance |
| rs765716211 | 2:235,950,086 | G/A | — | likely benign |
| rs138703238 | 2:235,950,095 | G/A | — | uncertain significance |
| rs141919221 | 2:235,950,184 | C/A | — | benign |
| rs201878792 | 2:235,950,201 | C/T | — | uncertain significance |
| rs1429828057 | 2:235,950,297 | G/A | — | uncertain significance |
| rs970345782 | 2:235,950,314 | G/A | — | uncertain significance |
| rs780844581 | 2:235,950,405 | A/G | — | uncertain significance |
| rs373851120 | 2:235,950,500 | C/A | — | uncertain significance |
| rs1170682298 | 2:235,950,548 | G/C | — | uncertain significance |
| rs1222688287 | 2:235,950,584 | A/G | — | uncertain significance |
| rs1346378295 | 2:235,950,594 | A/C | — | uncertain significance |
| rs2470328937 | 2:235,950,669 | A/G | — | uncertain significance |
| rs2470329057 | 2:235,950,692 | T/C | — | likely benign |
| rs749521740 | 2:235,950,703 | C/T | — | likely benign |
| rs139088001 | 2:235,950,749 | G/A | — | uncertain significance |
| rs1695676623 | 2:235,950,788 | A/G | — | uncertain significance |
| rs1695679016 | 2:235,950,816 | A/G | — | uncertain significance |
| rs1056445903 | 2:235,950,818 | T/G | — | uncertain significance |
| rs34237841 | 2:235,950,823 | C/T | — | benign |
| rs34177695 | 2:235,950,883 | G/A | — | benign |
| rs761231702 | 2:235,950,906 | A/C | — | uncertain significance |
| rs35766016 | 2:235,950,928 | G/C | — | benign |
| rs1695685647 | 2:235,950,933 | G/A | — | uncertain significance |
| rs2470330370 | 2:235,950,963 | C/G | — | uncertain significance |
| rs114242502 | 2:235,951,001 | G/A | — | likely benign |
| rs751725643 | 2:235,951,092 | G/A | — | uncertain significance |
| rs186048983 | 2:235,951,095 | G/T | — | uncertain significance |
| rs753855465 | 2:235,951,116 | A/G | — | uncertain significance |
| rs201649104 | 2:235,951,181 | C/T | — | uncertain significance |
| rs140159420 | 2:235,951,182 | G/A | — | uncertain significance |
| rs2470331782 | 2:235,951,211 | A/G | — | uncertain significance |
| rs759526032 | 2:235,951,254 | A/G | — | uncertain significance |
| rs114710262 | 2:235,951,369 | G/A | — | benign |
| rs1345818586 | 2:235,951,415 | C/G | — | uncertain significance |
| rs745554179 | 2:235,951,493 | C/T | — | uncertain significance |
| rs141861966 | 2:235,951,526 | G/T | — | uncertain significance |
| rs139172354 | 2:235,951,605 | C/T | — | uncertain significance |
| rs373888787 | 2:235,951,650 | G/A | — | uncertain significance |
| rs79192381 | 2:235,951,759 | G/A | — | benign |
| rs149550530 | 2:235,951,775 | C/T | — | uncertain significance |
| rs369561012 | 2:235,951,802 | C/T | — | uncertain significance |
| rs201375905 | 2:235,951,814 | G/A | — | uncertain significance |
| rs769862740 | 2:235,951,880 | G/C | — | uncertain significance |
| rs72987446 | 2:235,957,953 | C/T | intron variant | — |
| rs10174126 | 2:235,960,893 | T/C | intron variant | — |
| rs762001858 | 2:235,961,273 | C/T | — | uncertain significance |
| rs754479794 | 2:235,961,300 | G/C | — | uncertain significance |
| rs778929264 | 2:235,961,375 | A/G | — | uncertain significance |
| rs145962934 | 2:235,961,376 | C/T | — | likely benign |
| rs1219701024 | 2:235,962,241 | G/T | — | uncertain significance |
| rs199919152 | 2:235,962,253 | G/A | — | likely benign |
| rs200804299 | 2:235,962,446 | G/A | — | uncertain significance |
| rs114947882 | 2:235,962,452 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.