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

3 papers

NM_015185.3

p.G434Splc

c.1300+2T>C

Surrounding Variants

1 paper

NM_001353921.2

p.G441Splc

c.1321+1G>A

1 paper

NM_015185.3

p.E429delFs

c.1285delC

1 paper

NM_015185.3

p.E429fs

c.1285_1286fs

2 papers

NM_001353921.2

p.E429delFs

c.1285delC

1 paper

NM_001353921.2

p.E429fs

c.1285_1286fs

1 paper

NM_001353921.2

p.R428K

c.1283G>A

1 paper

NM_001353921.2

p.R425G

c.1273A>G

6 papers

NM_015185.3

p.E400K

c.1198G>A

1 paper

NM_001353921.2

p.N403S

c.1208A>G

1 paper

NM_015185.3

p.M388V

c.1162A>G

1 paper

NM_001353921.2

p.D388A

c.1163A>C

1 paper

NM_001353921.2

p.V381G

c.1142T>G