SRPRB
SRP receptor subunit beta
Summary
The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1440253794 | 3:133,524,739 | G/T | — | uncertain significance |
| rs747654946 | 3:133,524,742 | G/T | — | uncertain significance |
| rs747430488 | 3:133,524,811 | T/C | — | uncertain significance |
| rs147764661 | 3:133,525,458 | T/C | — | uncertain significance |
| rs745490539 | 3:133,525,471 | G/A | — | uncertain significance |
| rs768418497 | 3:133,525,482 | A/G | — | uncertain significance |
| rs373071143 | 3:133,526,613 | C/A | — | uncertain significance |
| rs755986028 | 3:133,526,639 | G/A | — | uncertain significance |
| rs112398870 | 3:133,526,655 | C/T | — | benign |
| rs367599793 | 3:133,530,021 | G/C | — | uncertain significance |
| rs775353473 | 3:133,530,034 | C/G | — | uncertain significance |
| rs201723098 | 3:133,534,472 | G/A | — | uncertain significance |
| rs1006850916 | 3:133,534,514 | T/C | — | uncertain significance |
| rs563903739 | 3:133,535,774 | A/C | — | conflicting classifications of pathogenicity |
| rs1534166 | 3:133,537,067 | A/G | intron variant | — |
| rs2530757143 | 3:133,538,411 | T/C | — | uncertain significance |
| rs200881946 | 3:133,538,497 | T/C | — | uncertain significance |
| rs558752347 | 3:133,538,531 | G/A | — | uncertain significance |
| rs368791266 | 3:133,538,557 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.