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.P135_P137del3

c.403_410del9

Surrounding Variants

1 paper

NM_018071.5

p.N138S

c.413A>G

1 paper

NM_018071.5

p.R130L

c.389G>T

1 paper

NM_018071.5

p.R130R

c.388C>A

1 paper

NM_018071.5

p.A140V

c.419C>T

1 paper

NM_018071.5

p.R161C

c.481C>T

1 paper

NM_018071.5

p.L167L

c.499C>T

1 paper

NM_018071.5

p.R175W

c.523C>T

1 paper

NM_018071.5

p.V90del1

c.268_269delGTG

1 paper

NM_018071.5

p.L84L

c.250C>T

1 paper

NM_018071.5

p.L192R

c.575T>G

1 paper

NM_018071.5

p.F76L

c.228C>A

1 paper

NM_018071.5

p.F76F

c.228C>T