Varaico: Literature-Extracted Genetic Variants

PLEKHG2

107 papers

RefSeq Summary

The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of het...

Pfam Domains

RhoGEFaa 106–281UCSCRhoGEF domain

SOS1_NGEF_PHaa 308–409UCSCSOS1/NGEF-like PH domain

Gene Aliases

HGNC Name

pleckstrin homology and RhoGEF domain containing G2

HGNC Alias Symbols

CLG; FLJ00018; ARHGEF42

Papers

RefSeq ID

Protein change

DNA change

1–12 of 103 variants

9 papers

NM_022835.3

p.R204W

c.610C>T

3 papers

NM_022835.3

p.V367M

c.1099G>A

3 papers

NM_022835.3

p.T813M

c.2438C>T

2 papers

NM_022835.3

p.R47delFs

c.139delC

2 papers

NM_022835.3

p.R86insFs

c.256dupC

2 papers

NM_022835.3

p.P453R

c.1358C>G

2 papers

NM_022835.3

p.G570R

c.1708G>A

2 papers

NM_022835.3

p.G570R

c.1708G>C

2 papers

NM_022835.3

p.R647H

c.1940G>A

2 papers

NM_022835.3

p.R844P

c.2531G>C

2 papers

NM_022835.3

p.A1206D

c.3617C>A

1 paper

NM_022835.3

p.P41S

c.121C>T