Varaico: Literature-Extracted Genetic Variants

SRGAP2

40 papers

RefSeq Summary

This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus h...

Pfam Domains

FCHaa 31–115UCSCFes/CIP4, and EFC/F-BAR homology domain

RhoGAPaa 504–652UCSCRhoGAP domain

SH3_1aa 733–778UCSCSH3 domain

Gene Aliases

HGNC Name

SLIT-ROBO Rho GTPase activating protein 2

HGNC Previous Symbol

FNBP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015326.5

p.R108L

c.323G>T

Surrounding Variants

1 paper

NM_015326.5

p.R108W

c.322C>T

1 paper

NM_015326.5

p.L93F

c.277C>T

1 paper

NM_015326.5

p.P126S

c.376C>T