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.Y161insFs

c.481_482ins4

Surrounding Variants

1 paper

NM_015326.5

p.Y161insFs

c.481_482insAC

1 paper

NM_015326.5

p.K165insFs

c.494_495ins4

1 paper

NM_015326.5

p.S179_E185delFs

c.537_555del19

2 papers

NM_015326.5

p.R235H

c.704G>A

1 paper

NM_015326.5

p.A249S

c.745G>T

1 paper

NM_015326.5

p.L254L

c.760T>C