Varaico: Literature-Extracted Genetic Variants

ARHGEF18

66 papers

RefSeq Summary

Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Ac...

Pfam Domains

RhoGEFaa 209–400UCSCRhoGEF domain

PH_16aa 427–544UCSCPH domain

RhoGEFaa 451–642UCSCRhoGEF domain

PH_16aa 669–786UCSCPH domain

Gene Aliases

HGNC Name

Rho/Rac guanine nucleotide exchange factor 18

HGNC Alias Symbols

P114-RhoGEF; KIAA0521; MGC15913; p114RhoGEF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001367823.1

p.P59S

c.175C>T

Surrounding Variants

1 paper

NM_001367823.1

p.S75*

c.224C>A

1 paper

NM_001367823.1

p.S75*

c.224C>G

1 paper

NM_001367823.1

p.R76delFs

c.226delA

1 paper

NM_001367823.1

p.R76R

c.228G>A

1 paper

NM_001367823.1

p.R92W

c.274A>T

1 paper

NM_001367823.1

p.S21fs

c.61_62fs

1 paper

NM_001367823.1

p.S98insFs

c.294dupA

1 paper

NM_001367823.1

p.P107L

c.320C>T

1 paper

NM_001367823.1

p.L113F

c.337C>T

1 paper

NM_001367823.1

p.G141G

c.423C>A

1 paper

NM_001367823.1

p.D145V

c.434A>T

1 paper

NM_001367823.1

p.G181Splc

c.541+1G>T