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

3 papers

NM_001354046.2

p.S185fs

c.553_554fs

Surrounding Variants

3 papers

NM_001354046.2

p.F184_S185insFs

c.552_553ins4

1 paper

NM_001354046.2

p.K186R

c.557A>G

1 paper

NM_001354046.2

p.L182H

c.545T>A

1 paper

NM_001354046.2

p.V192D

c.575T>A

1 paper

NM_001354046.2

p.R194L

c.581G>T

1 paper

NM_001354046.2

p.Q175L

c.524A>T

1 paper

NM_001354046.2

p.A170insFs

c.509_510insGT

1 paper

NM_001354046.2

p.R169K

c.506G>A

1 paper

NM_001354046.2

p.V167_V168insFs

c.501_502insC

1 paper

NM_001354046.2

p.E202A

c.605A>C

1 paper

NM_001354046.2

p.Q165*

c.493C>T

1 paper

NM_001354046.2

p.L205P

c.614T>C