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

1 paper

NM_001666.5

p.R529G

c.1585C>G

Surrounding Variants

1 paper

NM_001666.5

p.R529C

c.1585C>T

1 paper

NM_001666.5

p.R529H

c.1586G>A

1 paper

NM_001666.5

p.I531M

c.1593C>G

1 paper

NM_001666.5

p.L522L

c.1566G>A

1 paper

NM_001666.5

p.P521A

c.1561C>G

1 paper

NM_001666.5

p.G540S

c.1618G>A

1 paper

NM_001666.5

p.G561Splc

c.1681+8C>G

1 paper

NM_001666.5

p.G561Splc

c.1681+13A>G

1 paper

NM_001666.5

p.G568G

c.1704C>T

1 paper

NM_001666.5

p.C569Y

c.1706G>A

1 paper

NM_001666.5

p.H572H

c.1716T>C

1 paper

NM_001666.5

p.P595R

c.1784C>G