SRGAP2C
SLIT-ROBO Rho GTPase activating protein 2C
Summary
This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012]
Known Variants4 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs587601104 | 1:120,813,294 | T/C | — | — |
| rs55664112 | 1:121,089,773 | C/G | — | — |
| rs2580520 | 1:121,112,052 | C/G | — | — |
| rs587751643 | 1:121,115,974 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.