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

1–12 of 157 variants

4 papers

NM_018071.5

p.R1062Q

c.3185G>A

2 papers

NM_018071.5

p.A288A

c.864G>A

2 papers

NM_018071.5

p.K293E

c.877A>G

2 papers

NM_018071.5

p.R393Q

c.1178G>A

2 papers

NM_018071.5

p.R834C

c.2500C>T

2 papers

NM_018071.5

p.V956L

c.2866G>C

2 papers

NM_018071.5

p.V956L

c.2866G>T

2 papers

NM_018071.5

p.A1185A

c.3555G>A

2 papers

NM_018071.5

p.L1189S

c.3566T>C

1 paper

NM_018071.5

p.M1K

c.2T>A

1 paper

NM_018071.5

p.E7Q

c.19G>C

1 paper

NM_018071.5

p.A16T

c.46G>A