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.V381G

c.1142T>G

Surrounding Variants

1 paper

NM_015185.3

p.V374F

c.1120G>T

1 paper

NM_001353921.2

p.E379K

c.1135G>A

1 paper

NM_001353921.2

p.D388A

c.1163A>C

1 paper

NM_001353921.2

p.D374Y

c.1120G>T

1 paper

NM_015185.3

p.R365H

c.1094G>A

1 paper

NM_015185.3

p.K363fs

c.1087_1088fs

1 paper

NM_001353921.2

p.Y369*

c.1107C>G

1 paper

NM_001353921.2

p.Y369*

c.1107C>A

1 paper

NM_015185.3

p.M388V

c.1162A>G

3 papers

NM_015185.3

p.R357I

c.1070G>T

4 papers

NM_015185.3

p.R356Q

c.1067G>A

1 paper

NM_001353921.2

p.N403S

c.1208A>G