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.P27P

c.81G>A

Surrounding Variants

1 paper

NM_001354046.2

p.P27Q

c.80C>A

1 paper

NM_001354046.2

p.S25T

c.73T>A

1 paper

NM_001354046.2

p.F30L

c.90T>G

1 paper

NM_001354046.2

p.L31M

c.91C>A

1 paper

NM_001354046.2

p.L31V

c.91C>G

1 paper

NM_001354046.2

p.L31R

c.92T>G

1 paper

NM_001354046.2

p.L31L

c.93G>A

2 papers

NM_001354046.2

p.Q32R

c.95A>G

1 paper

NM_001354046.2

p.T23fs

c.67_68fs

1 paper

NM_001354046.2

p.K22insFs

c.65_66ins4

1 paper

NM_001354046.2

p.A33E

c.98C>A

1 paper

NM_001354046.2

p.A33V

c.98C>T