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

1–12 of 96 variants

2 papers

NM_001666.5

p.V139M

c.415G>A

2 papers

NM_001666.5

p.R198W

c.592C>T

2 papers

NM_001666.5

p.S367S

c.1101C>T

2 papers

NM_001666.5

p.D692G

c.2075A>G

1 paper

NM_001666.5

p.M1insFs

c.1_2insC

1 paper

NM_001666.5

p.L7L

c.19C>T

1 paper

NM_001666.5

p.K6del1

c.16_18delCTT

1 paper

NM_001666.5

p.G12V

c.35G>T

1 paper

NM_001666.5

p.L13P

c.38T>C

1 paper

NM_001666.5

p.A15S

c.43G>T

1 paper

NM_001666.5

p.E16_E18del3

c.46_53del9

1 paper

NM_001666.5

p.Q20R

c.59A>G