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.E802fs

c.2404_2405fs

Surrounding Variants

1 paper

NM_001367823.1

p.R809S

c.2425C>A

1 paper

NM_001367823.1

p.P731S

c.2191C>T

1 paper

NM_001367823.1

p.V727_D728Splc

c.2182-7C>T

1 paper

NM_001367823.1

p.Q852K

c.2554C>A

1 paper

NM_001367823.1

p.D861G

c.2582A>G

2 papers

NM_001367823.1

p.E878*

c.2632G>T

1 paper

NM_001367823.1

p.L708L

c.2124G>C

1 paper

NM_001367823.1

p.L707L

c.2119C>T

1 paper

NM_001367823.1

p.Q889R

c.2666A>G

2 papers

NM_001367823.1

p.F913_S921del0

c.2738_2761del24

1 paper

NM_001367823.1

p.G915G

c.2745C>T

1 paper

NM_001367823.1

p.E964K

c.2890G>A