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

4 papers

NM_001354046.2

p.L576P

c.1727T>C

Surrounding Variants

1 paper

NM_001354046.2

p.T575_L576Splc

c.1726-3C>A

1 paper

NM_001354046.2

p.T582I

c.1745C>T

1 paper

NM_001354046.2

p.A593V

c.1778C>T

1 paper

NM_001354046.2

p.T596A

c.1786A>G

1 paper

NM_001354046.2

p.L602R

c.1805T>G

1 paper

NM_001354046.2

p.H604R

c.1811A>G

1 paper

NM_001354046.2

p.H608L

c.1823A>T

1 paper

NM_001354046.2

p.L620L

c.1858C>T

1 paper

NM_001354046.2

p.P626_K627del2

c.1876_1880del6

1 paper

NM_001354046.2

p.P626_K627del1

c.1878_1880delCAA

1 paper

NM_001354046.2

p.R635W

c.1903C>T

1 paper

NM_001354046.2

p.P636insFs

c.1906_1907insC