Varaico: Literature-Extracted Genetic Variants

ARHGEF40

133 papers

RefSeq Summary

This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin...

Pfam Domains

KIAA1755_Naa 2–183UCSCKIAA1755 N-terminal domain

KIAA1755_Caa 906–956UCSCKIAA1755 C-terminal domain

RhoGEFaa 1089–1248UCSCRhoGEF domain

SOS1_NGEF_PHaa 1266–1370UCSCSOS1/NGEF-like PH domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 40

HGNC Alias Symbols

solo; FLJ10357

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018071.5

p.R393Q

c.1178G>A

Surrounding Variants

1 paper

NM_018071.5

p.R393G

c.1177C>G

1 paper

NM_018071.5

p.D404N

c.1210G>A

1 paper

NM_018071.5

p.A413G

c.1238C>G

1 paper

NM_018071.5

p.G362del1

c.1084_1085delGGC

1 paper

NM_018071.5

p.R356_G357del1

c.1067_1069delGAG

1 paper

NM_018071.5

p.K432R

c.1295A>G

1 paper

NM_018071.5

p.E433G

c.1298A>G

1 paper

NM_018071.5

p.E436D

c.1308A>C

1 paper

NM_018071.5

p.E436D

c.1308A>T

1 paper

NM_018071.5

p.C348Y

c.1043G>A

1 paper

NM_018071.5

p.S345fs

c.1033_1034fs

1 paper

NM_018071.5

p.P337delFs

c.1010delC