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

4 papers

NM_015185.3

p.S317W

c.950C>G

Surrounding Variants

5 papers

NM_015185.3

p.G323R

c.967G>C

5 papers

NM_015185.3

p.G323R

c.967G>A

1 paper

NM_001353921.2

p.E317E

c.951G>A

1 paper

NM_001353921.2

p.G316V

c.947G>T

1 paper

NM_001353921.2

p.W334*

c.1001G>A

4 papers

NM_001353921.2

p.P338S

c.1012C>T

1 paper

NM_001353921.2

p.R341R

c.1023C>T

7 papers

NM_001173480.2

p.R236W

c.706C>T

NM_015185.3

p.R338W

c.1012C>T

2 papers

NM_015185.3

p.Q346*

c.1036C>T

NM_001353921.2

p.Q353*

c.1057C>T

1 paper

NM_001353921.2

p.C357F

c.1070G>T

1 paper

NM_015185.3

p.K352K

c.1056G>A

1 paper

NM_001353921.2

p.Q308Q

c.924G>A