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.R849P

c.2546G>C

Surrounding Variants

1 paper

NM_020762.4

p.R860C

c.2578C>T

1 paper

NM_020762.4

p.R847Splc

c.2541-48C>T

1 paper

NM_020762.4

p.H872_P874del0

c.2616_2621del6

4 papers

NM_020762.4

p.H875R

c.2624A>G

1 paper

NM_020762.4

p.A876V

c.2627C>T

1 paper

NM_020762.4

p.S888R

c.2662A>C

1 paper

NM_020762.4

p.S888R

c.2664C>A

1 paper

NM_020762.4

p.S888R

c.2664C>G

1 paper

NM_020762.4

p.Q898H

c.2694G>C

1 paper

NM_020762.4

p.Q898H

c.2694G>T

1 paper

NM_020762.4

p.D842Y

c.2524G>T

1 paper

NM_020762.4

p.N904S

c.2711A>G