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_001346201.2

p.H617Y

c.1849C>T

Surrounding Variants

1 paper

NM_020762.4

p.Y633C

c.1898A>G

11 papers

NM_020762.4

p.R617C

c.1849C>T

NM_001346201.2

p.R594C

c.1780C>T

1 paper

NM_020762.4

p.I606L

c.1816A>C

1 paper

NM_020762.4

p.I606L

c.1816A>T

1 paper

NM_020762.4

p.Q643_Y644insA

c.1927_1931ins3

1 paper

NM_020762.4

p.D646E

c.1938T>A

1 paper

NM_020762.4

p.D646E

c.1938T>G

1 paper

NM_020762.4

p.P665T

c.1993C>A

1 paper

NM_020762.4

p.E668K

c.2002G>A

1 paper

NM_020762.4

p.Q672H

c.2016A>C

1 paper

NM_020762.4

p.Q672H

c.2016A>T

1 paper

NM_020762.4

p.V673L

c.2017G>C