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.V41_W53del0

c.122_157del36

Surrounding Variants

1 paper

NM_001353921.2

p.D46_D51del0

c.138_152del15

17 papers

NM_001353921.2

p.G55A

c.164G>C

1 paper

NM_001353921.2

p.G55D

c.164G>A

1 paper

NM_001353921.2

p.K43_N49del0

c.128_145del18

1 paper

NM_001353921.2

p.A38_D46del0

c.112_138del27

1 paper

NM_001353921.2

p.A35_D46del0

c.103_138del36

1 paper

NM_015185.3

p.A40V

c.119C>T

1 paper

NM_001353921.2

p.V41_D46del0

c.121_138del18

1 paper

NM_001353921.2

p.V41_L45del0

c.123_134del12

1 paper

NM_001353921.2

p.K43_V44del1

c.129_131delACT

9 papers

NM_015185.3

p.G55A

c.164G>C

1 paper

NM_001353921.2

p.K43T

c.128A>C