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

1 paper

NM_001367823.1

p.T372I

c.1115C>T

Surrounding Variants

1 paper

NM_001367823.1

p.A381V

c.1142C>T

2 papers

NM_001367823.1

p.S360R

c.1080C>A

1 paper

NM_001130955.2

p.A98T

c.292G>A

1 paper

NM_001367823.1

p.L481L

c.1443G>A

1 paper

NM_001367823.1

p.R523delFs

c.1567delC

1 paper

NM_001367823.1

p.V535I

c.1603G>A

1 paper

NM_001367823.1

p.G556delFs

c.1668delC

1 paper

NM_001130955.2

p.I339F

c.1015A>T

1 paper

NM_001367823.1

p.L597F

c.1789C>T