Varaico: Literature-Extracted Genetic Variants

ARHGEF7

696 papers

RefSeq Summary

This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP bi...

Pfam Domains

CHaa 1–91UCSCCalponin homology (CH) domain

CHaa 1–113UCSCCalponin homology (CH) domain

SH3_2aa 10–63UCSCVariant SH3 domain

RhoGEFaa 97–271UCSCRhoGEF domain

RhoGEF67_u1aa 117–163UCSCUnstructured region one on RhoGEF 6 and 7

PHaa 302–400UCSCPH domain

Gene Aliases

HGNC Name

Rho guanine nucleotide exchange factor 7

HGNC Alias Symbols

KIAA0142; PIXB; DKFZp761K1021; Nbla10314; DKFZp686C12170; BETA-PIX; COOL1; P85SPR; P85; P85COOL1; P50BP; P50

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001354046.2

p.Y340D

c.1018T>G

Surrounding Variants

2 papers

NM_001354046.2

p.L341F

c.1021C>T

1 paper

NM_001354046.2

p.P334L

c.1001C>T

1 paper

NM_001354046.2

p.L330S

c.989T>C

1 paper

NM_001354046.2

p.V351G

c.1052T>G

1 paper

NM_001354046.2

p.C328_L330del3

c.982_989del9

1 paper

NM_001354046.2

p.V325V

c.975C>T

1 paper

NM_001354046.2

p.V325I

c.973G>A

1 paper

NM_001354046.2

p.T355K

c.1064C>A

1 paper

NM_001320854.2

p.T120M

c.359C>T

1 paper

NM_001354046.2

p.H357Y

c.1069C>T

1 paper

NM_001354046.2

p.S358Splc

c.1073+4C>T

1 paper

NM_001354046.2

p.S358Splc

c.1073+5G>A