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.G304R

c.910G>A

Surrounding Variants

1 paper

NM_001367823.1

p.G304R

c.910G>C

1 paper

NM_001367823.1

p.G276E

c.827G>A

1 paper

NM_001367823.1

p.K275_G276Splc

c.826-1G>A

1 paper

NM_001367823.1

p.T270A

c.808A>G

1 paper

NM_001367823.1

p.R268*

c.802C>T

1 paper

NM_001367823.1

p.R266H

c.797G>A

1 paper

NM_001367823.1

p.C264R

c.790T>C

2 papers

NM_001367823.1

p.S242N

c.725G>A

1 paper

NM_001367823.1

p.E241Splc

c.722+1G>A

1 paper

NM_001367823.1

p.G228A

c.683G>C

1 paper

NM_001367823.1

p.G181Splc

c.541+16G>A

1 paper

NM_001367823.1

p.G181Splc

c.541+1G>T