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.E54K

c.160G>A

Surrounding Variants

1 paper

NM_001354046.2

p.T52A

c.154A>G

1 paper

NM_001354046.2

p.K55_V56Splc

c.165+1G>A

3 papers

NM_001354046.2

p.K55_V56Splc

c.165+1G>C

1 paper

NM_001354046.2

p.P50L

c.149C>T

1 paper

NM_001354046.2

p.P50_G51delFs

c.150_153del4

1 paper

NM_001354046.2

p.L48L

c.142C>T

1 paper

NM_001354046.2

p.R47P

c.140G>C

1 paper

NM_001354046.2

p.R47C

c.139C>T

1 paper

NM_001354046.2

p.C42S

c.124T>A

1 paper

NM_001354046.2

p.L41L

c.123C>T

1 paper

NM_001354046.2

p.G38E

c.113G>A

2 papers

NM_001354046.2

p.D37A

c.110A>C