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.K751T

c.2252A>C

Surrounding Variants

1 paper

NM_020762.4

p.R757W

c.2269C>T

1 paper

NM_020762.4

p.P745Q

c.2234C>A

2 papers

NM_020762.4

p.S758S

c.2274T>C

1 paper

NM_020762.4

p.S763S

c.2289C>T

1 paper

NM_020762.4

p.K765T

c.2294A>C

1 paper

NM_020762.4

p.D803N

c.2407G>A

1 paper

NM_020762.4

p.L810V

c.2428C>G

1 paper

NM_020762.4

p.T824M

c.2471C>T

1 paper

NM_020762.4

p.D842Y

c.2524G>T

1 paper

NM_020762.4

p.R847Splc

c.2541-48C>T

1 paper

NM_020762.4

p.R849P

c.2546G>C

1 paper

NM_020762.4

p.R860C

c.2578C>T