Varaico: Literature-Extracted Genetic Variants

ARHGAP4

133 papers

RefSeq Summary

This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous g...

Pfam Domains

FCHaa 31–119UCSCFes/CIP4, and EFC/F-BAR homology domain

RhoGAPaa 521–669UCSCRhoGAP domain

SH3_9aa 753–801UCSCVariant SH3 domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 4

HGNC Alias Symbols

KIAA0131; p115; RhoGAP4; SrGAP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001666.5

p.D692G

c.2075A>G

Surrounding Variants

1 paper

NM_001666.5

p.Q690K

c.2068C>A

1 paper

NM_001666.5

p.G703S

c.2107G>A

1 paper

NM_001666.5

p.S714S

c.2142C>T

1 paper

NM_001666.5

p.L642V

c.1924C>G

1 paper

NM_001666.5

p.E737*

c.2209G>T

1 paper

NM_001666.5

p.Y634D

c.1900T>G

1 paper

NM_001666.5

p.V617M

c.1849G>A

1 paper

NM_001666.5

p.D744D

c.2232C>T

1 paper

NM_001666.5

p.V749G

c.2246T>G

1 paper

NM_001666.5

p.R760H

c.2279G>A

1 paper

NM_001666.5

p.V772L

c.2314G>T

1 paper

NM_001666.5

p.V772L

c.2314G>C