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

2 papers

NM_020762.4

p.I302T

c.905T>C

Surrounding Variants

1 paper

NM_020762.4

p.E303delFs

c.909delG

1 paper

NM_020762.4

p.D307H

c.919G>C

1 paper

NM_020762.4

p.E297Q

c.889G>C

1 paper

NM_020762.4

p.E292K

c.874G>A

1 paper

NM_020762.4

p.E288K

c.862G>A

1 paper

NM_020762.4

p.R317T

c.950G>C

1 paper

NM_020762.4

p.M319T

c.956T>C

9 papers

NM_020762.4

p.A275T

c.823G>A

1 paper

NM_020762.4

p.M330L

c.988A>C

1 paper

NM_020762.4

p.M330L

c.988A>T

2 papers

NM_020762.4

p.H274Y

c.820C>T

1 paper

NM_020762.4

p.G272S

c.814G>A