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

1–12 of 126 variants

14 papers

NM_020762.4

p.Q149H

c.447A>C

13 papers

NM_020762.4

p.Q149H

c.447A>T

11 papers

NM_020762.4

p.R617C

c.1849C>T

9 papers

NM_020762.4

p.A275T

c.823G>A

6 papers

NM_020762.4

p.N92I

c.275A>T

4 papers

NM_020762.4

p.H875R

c.2624A>G

2 papers

NM_020762.4

p.D83G

c.248A>G

2 papers

NM_020762.4

p.H274Y

c.820C>T

2 papers

NM_020762.4

p.I302T

c.905T>C

2 papers

NM_020762.4

p.V512I

c.1534G>A

2 papers

NM_020762.4

p.S758S

c.2274T>C

1 paper

NM_020762.4

p.F7V

c.19T>G