Varaico: Literature-Extracted Genetic Variants

ARHGEF9

114 papers

RefSeq Summary

The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. This brain-specific protein a...

Pfam Domains

SH3_2aa 2–43UCSCVariant SH3 domain

RhoGEFaa 86–264UCSCRhoGEF domain

SOS1_NGEF_PHaa 292–402UCSCSOS1/NGEF-like PH domain

Gene Aliases

HGNC Name

Cdc42 guanine nucleotide exchange factor 9

HGNC Alias Symbols

KIAA0424; PEM-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_015185.3

p.R104Q

c.311G>A

NM_001353921.2

p.R111Q

c.332G>A

Surrounding Variants

4 papers

NM_001173480.2

p.R2W

c.4C>T

NM_001353921.2

p.R111W

c.331C>T

1 paper

NM_001353921.2

p.D108A

c.323A>C

1 paper

NM_001353921.2

p.E117A

c.350A>C

1 paper

NM_001353921.2

p.R102Q

c.305G>A

1 paper

NM_001353921.2

p.L100L

c.298C>T

1 paper

NM_001353921.2

p.P93delFs

c.279delG

1 paper

NM_001353921.2

p.N88S

c.263A>G

1 paper

NM_001353921.2

p.Q87delFs

c.261delC

2 papers

NM_015185.3

p.E127_G128Splc

c.381+3A>G

3 papers

NM_001173479.2

p.V19M

c.55G>A

1 paper

NM_001353921.2

p.E78V

c.233A>T

1 paper

NM_015185.3

p.W65*

c.195G>A