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.D1049N

c.3145G>A

Surrounding Variants

4 papers

NM_018071.5

p.R1062Q

c.3185G>A

1 paper

NM_018071.5

p.P1066S

c.3196C>T

1 paper

NM_018071.5

p.D1067_P1069del3

c.3199_3206del9

1 paper

NM_018071.5

p.R1081R

c.3243A>G

1 paper

NM_018071.5

p.R983C

c.2947C>T

1 paper

NM_018071.5

p.A1085G

c.3254C>G

1 paper

NM_018071.5

p.R968W

c.2902C>T

2 papers

NM_018071.5

p.V956L

c.2866G>C

2 papers

NM_018071.5

p.V956L

c.2866G>T

1 paper

NM_018071.5

p.W938L

c.2813G>T

1 paper

NM_018071.5

p.G1121V

c.3362G>T

1 paper

NM_018071.5

p.A933fs

c.2797_2798fs