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.H114R

c.341A>G

Surrounding Variants

1 paper

NM_020762.4

p.W100C

c.300G>C

1 paper

NM_020762.4

p.W100C

c.300G>T

6 papers

NM_020762.4

p.N92I

c.275A>T

1 paper

NM_020762.4

p.H84fs

c.250_251fs

1 paper

NM_020762.4

p.D83_H84insFs

c.249_250ins37

2 papers

NM_020762.4

p.D83G

c.248A>G

1 paper

NM_020762.4

p.T78I

c.233C>T

1 paper

NM_020762.4

p.D48G

c.143A>G

1 paper

NM_020762.4

p.K33I

c.98A>T