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.V139M

c.415G>A

Surrounding Variants

1 paper

NM_001666.5

p.V139E

c.416T>A

1 paper

NM_001666.5

p.D138N

c.412G>A

1 paper

NM_001666.5

p.K145_S146Splc

c.435+1G>A

1 paper

NM_001666.5

p.R131S

c.391C>A

1 paper

NM_001666.5

p.K92Q

c.274A>C

1 paper

NM_001666.5

p.L149M

c.445C>A

1 paper

NM_001666.5

p.E86K

c.256G>A

1 paper

NM_001666.5

p.R80C

c.238C>T

1 paper

NM_001666.5

p.G79V

c.236G>T

1 paper

NM_001666.5

p.R65L

c.194G>T

1 paper

NM_001666.5

p.R65P

c.194G>C

1 paper

NM_001666.5

p.E60*

c.178G>T