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

1 paper

NM_001353921.2

p.E299delFs

c.897delC

Surrounding Variants

2 papers

NM_015185.3

p.I294T

c.881T>C

9 papers

NM_015185.3

p.R290H

c.869G>A

NM_001353921.2

p.R297H

c.890G>A

5 papers

NM_015185.3

p.R290C

c.868C>T

2 papers

NM_015185.3

p.R289*

c.865C>T

1 paper

NM_001353921.2

p.R294_K295ins1

c.882_883insATT

1 paper

NM_015185.3

p.R287H

c.860G>A

2 papers

NM_001353921.2

p.W307*

c.920G>A

NM_015185.3

p.W300*

c.899G>A

1 paper

NM_015185.3

p.W300*

c.900G>A

1 paper

NM_001353921.2

p.I291delFs

c.872delA

1 paper

NM_001353921.2

p.Q308Q

c.924G>A

3 papers

NM_001353921.2

p.Q290*

c.868C>T

5 papers

NM_001353921.2

p.Q289*

c.865C>T