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.A829T

c.2485G>A

Surrounding Variants

1 paper

NM_018071.5

p.R823Q

c.2468G>A

1 paper

NM_018071.5

p.M809V

c.2425A>G

1 paper

NM_018071.5

p.Q803Q

c.2409G>A

1 paper

NM_018071.5

p.S797S

c.2391G>A

2 papers

NM_018071.5

p.R834C

c.2500C>T

1 paper

NM_018071.5

p.R839Q

c.2516G>A

1 paper

NM_018071.5

p.L842fs

c.2524_2525fs

1 paper

NM_018071.5

p.Q859Q

c.2577G>A

1 paper

NM_018071.5

p.R870Q

c.2609G>A

1 paper

NM_018071.5

p.Q880_A881Splc

c.2640+160G>A

1 paper

NM_018071.5

p.Q880_A881Splc

c.2641-66C>T

1 paper

NM_018071.5

p.E883K

c.2647G>A