GNB2
G protein subunit beta 2
Summary
Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs221789 | 7:100,271,521 | T/C | regulatory region variant | — |
| rs76931881 | 7:100,273,504 | C/G | — | — |
| rs1324648019 | 7:100,274,192 | C/G | — | uncertain significance |
| rs779612089 | 7:100,274,368 | C/T | — | uncertain significance |
| rs2486195978 | 7:100,274,370 | C/A | — | uncertain significance |
| rs948934468 | 7:100,274,374 | G/T | — | pathogenic |
| rs1424516740 | 7:100,274,988 | G/A | — | pathogenic |
| rs1804373189 | 7:100,275,000 | G/A | — | pathogenic |
| rs2131350514 | 7:100,275,036 | A/G | — | pathogenic |
| rs2131350517 | 7:100,275,037 | A/C | — | pathogenic |
| rs78530908 | 7:100,275,110 | C/G | — | likely benign |
| rs199810512 | 7:100,275,121 | G/A | — | uncertain significance |
| rs2486197685 | 7:100,275,124 | C/G | — | uncertain significance |
| rs2486197750 | 7:100,275,137 | T/C | — | likely pathogenic |
| rs1804377797 | 7:100,275,169 | G/A | — | uncertain significance |
| rs908936166 | 7:100,275,179 | G/A | — | uncertain significance |
| rs777997121 | 7:100,275,210 | C/A | — | pathogenic |
| rs2486197982 | 7:100,275,226 | A/G | — | uncertain significance |
| rs1269209736 | 7:100,275,238 | C/T | — | uncertain significance |
| rs1201205764 | 7:100,275,239 | G/A | — | uncertain significance |
| rs2486198604 | 7:100,275,392 | C/T | — | uncertain significance |
| rs2486198619 | 7:100,275,395 | T/A | — | uncertain significance |
| rs2486198654 | 7:100,275,412 | A/C | — | uncertain significance |
| rs62482253 | 7:100,275,444 | G/A | — | likely benign |
| rs1804399083 | 7:100,275,758 | G/A | — | uncertain significance |
| rs771831778 | 7:100,275,816 | C/A | — | uncertain significance |
| rs2486200428 | 7:100,275,914 | G/A | — | uncertain significance |
| rs1554371850 | 7:100,276,061 | A/C | — | uncertain significance |
| rs144309481 | 7:100,276,092 | C/G | — | likely benign |
| rs1362596396 | 7:100,276,105 | C/T | — | uncertain significance |
| rs377520963 | 7:100,276,108 | A/G | — | uncertain significance |
| rs746067913 | 7:100,276,109 | T/C | — | likely benign |
| rs1804412977 | 7:100,276,110 | G/C | — | uncertain significance |
| rs147810006 | 7:100,276,124 | A/T | — | likely pathogenic |
| rs1479619667 | 7:100,276,329 | G/A | — | uncertain significance |
| rs17850902 | 7:100,276,355 | C/T | — | benign |
| rs2131352509 | 7:100,276,407 | C/G | — | uncertain significance |
| rs907881562 | 7:100,276,415 | C/G | — | uncertain significance |
| rs117756744 | 7:100,277,212 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.