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

1 paper

NM_018071.5

p.E436D

c.1308A>C

Surrounding Variants

1 paper

NM_018071.5

p.E436D

c.1308A>T

1 paper

NM_018071.5

p.E433G

c.1298A>G

1 paper

NM_018071.5

p.K432R

c.1295A>G

1 paper

NM_018071.5

p.A413G

c.1238C>G

1 paper

NM_018071.5

p.C462F

c.1385G>T

1 paper

NM_018071.5

p.T465R

c.1394C>G

1 paper

NM_018071.5

p.D404N

c.1210G>A

1 paper

NM_018071.5

p.R472S

c.1416A>T

1 paper

NM_018071.5

p.L474P

c.1421T>C

2 papers

NM_018071.5

p.R393Q

c.1178G>A

1 paper

NM_018071.5

p.R393G

c.1177C>G

1 paper

NM_018071.5

p.C481S

c.1441T>A