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.Y447H

c.1339T>C

Surrounding Variants

1 paper

NM_001666.5

p.T438T

c.1314C>T

1 paper

NM_001666.5

p.R430R

c.1290C>A

1 paper

NM_001666.5

p.A426V

c.1277C>T

1 paper

NM_001666.5

p.Q425Q

c.1275G>A

1 paper

NM_001666.5

p.R424W

c.1270C>T

1 paper

NM_001666.5

p.S413insFs

c.1238_1239insA

1 paper

NM_001666.5

p.T411T

c.1233C>T

1 paper

NM_001666.5

p.R368S

c.1102C>A

2 papers

NM_001666.5

p.S367S

c.1101C>T

1 paper

NM_001666.5

p.R495C

c.1483C>T

1 paper

NM_001666.5

p.P521A

c.1561C>G

1 paper

NM_001666.5

p.L522L

c.1566G>A