Varaico: Literature-Extracted Genetic Variants

SRGAP1

126 papers

RefSeq Summary

The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to ...

Pfam Domains

FCHaa 31–116UCSCFes/CIP4, and EFC/F-BAR homology domain

RhoGAPaa 520–668UCSCRhoGAP domain

SH3_1aa 749–794UCSCSH3 domain

Gene Aliases

HGNC Name

SLIT-ROBO Rho GTPase activating protein 1

HGNC Alias Symbols

KIAA1304; ARHGAP13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020762.4

p.V157A

c.470T>C

Surrounding Variants

1 paper

NM_020762.4

p.V157V

c.471T>C

1 paper

NM_020762.4

p.L158F

c.472C>T

1 paper

NM_020762.4

p.K156insFs

c.467dupA

1 paper

NM_020762.4

p.E152*

c.454G>T

14 papers

NM_020762.4

p.Q149H

c.447A>C

13 papers

NM_020762.4

p.Q149H

c.447A>T

1 paper

NM_020762.4

p.F148L

c.442T>C