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.K664R

c.1991A>G

Surrounding Variants

1 paper

NM_001367823.1

p.L681delFs

c.2041delC

1 paper

NM_001367823.1

p.K701R

c.2102A>G

1 paper

NM_001367823.1

p.D702Splc

c.2104+4A>C

1 paper

NM_001367823.1

p.L597F

c.1789C>T

1 paper

NM_001130955.2

p.I339F

c.1015A>T

1 paper

NM_001367823.1

p.L707L

c.2119C>T

1 paper

NM_001367823.1

p.L708L

c.2124G>C

1 paper

NM_001367823.1

p.V727_D728Splc

c.2182-7C>T

1 paper

NM_001367823.1

p.P731S

c.2191C>T

1 paper

NM_001367823.1

p.E802fs

c.2404_2405fs

1 paper

NM_001367823.1

p.R809S

c.2425C>A

1 paper

NM_001367823.1

p.G556delFs

c.1668delC