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.V956L

c.2866G>T

Surrounding Variants

2 papers

NM_018071.5

p.V956L

c.2866G>C

1 paper

NM_018071.5

p.R968W

c.2902C>T

1 paper

NM_018071.5

p.W938L

c.2813G>T

1 paper

NM_018071.5

p.A933fs

c.2797_2798fs

1 paper

NM_018071.5

p.A933insFs

c.2797_2798ins4

1 paper

NM_018071.5

p.R983C

c.2947C>T

1 paper

NM_018071.5

p.G917S

c.2749G>A

1 paper

NM_018071.5

p.A905T

c.2713G>A

1 paper

NM_018071.5

p.E883K

c.2647G>A

1 paper

NM_018071.5

p.D1049N

c.3145G>A

1 paper

NM_018071.5

p.Q880_A881Splc

c.2641-66C>T

4 papers

NM_018071.5

p.R1062Q

c.3185G>A