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.N1045T

c.3134A>C

Surrounding Variants

1 paper

NM_001367823.1

p.A1054insFs

c.3161dupC

1 paper

NM_001367823.1

p.S1031delFs

c.3092delC

1 paper

NM_015318.4

p.R723C

c.2167C>T

1 paper

NM_001367823.1

p.Q1016*

c.3046C>T

1 paper

NM_001367823.1

p.Q1075Q

c.3225G>A

1 paper

NM_001367823.1

p.Q1009*

c.3025C>T

1 paper

NM_001367823.1

p.A1004V

c.3011C>T

1 paper

NM_001367823.1

p.R1099H

c.3296G>A

1 paper

NM_001367823.1

p.A1115D

c.3344C>A

1 paper

NM_001367823.1

p.E1160_A1161Splc

c.3480+150A>C

1 paper

NM_001367823.1

p.E964K

c.2890G>A

1 paper

NM_001367823.1

p.G915G

c.2745C>T