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.G506V

c.1517G>T

Surrounding Variants

2 papers

NM_020762.4

p.V512I

c.1534G>A

1 paper

NM_020762.4

p.K513_D514Splc

c.1539+202A>G

1 paper

NM_020762.4

p.E524K

c.1570G>A

1 paper

NM_020762.4

p.S525G

c.1573A>G

1 paper

NM_020762.4

p.H537delFs

c.1610delA

1 paper

NM_020762.4

p.H537Q

c.1611T>G

1 paper

NM_020762.4

p.I553T

c.1658T>C

1 paper

NM_020762.4

p.G560G

c.1680T>G

1 paper

NM_020762.4

p.N574T

c.1721A>C

1 paper

NM_020762.4

p.R585H

c.1754G>A