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.L192R

c.575T>G

Surrounding Variants

1 paper

NM_018071.5

p.G195G

c.585A>G

1 paper

NM_018071.5

p.P206H

c.617C>A

1 paper

NM_018071.5

p.P209_S214del0

c.625_642del18

1 paper

NM_018071.5

p.R175W

c.523C>T

1 paper

NM_018071.5

p.S214N

c.641G>A

1 paper

NM_018071.5

p.L167L

c.499C>T

1 paper

NM_018071.5

p.E220*

c.658G>T

1 paper

NM_018071.5

p.R161C

c.481C>T

1 paper

NM_018071.5

p.R225W

c.673C>T

1 paper

NM_018071.5

p.R225Q

c.674G>A

1 paper

NM_018071.5

p.V243A

c.728T>C

1 paper

NM_018071.5

p.A140V

c.419C>T