Varaico: Literature-Extracted Genetic Variants

ARHGEF25

57 papers

RefSeq Summary

Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which intera...

Pfam Domains

RhoGEFaa 164–334UCSCRhoGEF domain

SOS1_NGEF_PHaa 349–464UCSCSOS1/NGEF-like PH domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 25

HGNC Alias Symbols

GEFT; p63RhoGEF

Papers

RefSeq ID

Protein change

DNA change

1–12 of 59 variants

5 papers

NM_182947.4

p.Q506R

c.1517A>G

3 papers

NM_182947.4

p.R2fs

c.4_5fs

2 papers

NM_182947.4

p.R2insFs

c.5_6insG

2 papers

NM_182947.4

p.R2insFs

c.4_5insGG

2 papers

NM_182947.4

p.G4_H5insGG

c.10_14ins6

2 papers

NM_182947.4

p.A146D

c.437C>A

2 papers

NM_182947.4

p.R332C

c.994C>T

1 paper

NM_182947.4

p.R9L

c.26G>T

1 paper

NM_182947.4

p.G24D

c.71G>A

1 paper

NM_182947.4

p.G31delFs

c.92delG

1 paper

NM_182947.4

p.G30V

c.89G>T

1 paper

NM_182947.4

p.G30G

c.90G>C