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

1–12 of 147 variants

17 papers

NM_001353921.2

p.G55A

c.164G>C

9 papers

NM_001353921.2

p.Q2*

c.4C>T

9 papers

NM_015185.3

p.G55A

c.164G>C

8 papers

NM_015185.3

p.R290H

c.869G>A

6 papers

NM_015185.3

p.R338W

c.1012C>T

6 papers

NM_015185.3

p.E400K

c.1198G>A

5 papers

NM_015185.3

p.L177P

c.530T>C

5 papers

NM_001353921.2

p.Q289*

c.865C>T

5 papers

NM_015185.3

p.R290C

c.868C>T

5 papers

NM_015185.3

p.G323R

c.967G>C

5 papers

NM_015185.3

p.G323R

c.967G>A

4 papers

NM_015185.3

p.R104Q

c.311G>A