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.R129H

c.386G>A

Surrounding Variants

2 papers

NM_001354046.2

p.R129C

c.385C>T

1 paper

NM_001354046.2

p.P125L

c.374C>T

1 paper

NM_001354046.2

p.D134E

c.402C>G

1 paper

NM_001354046.2

p.V121V

c.363G>A

1 paper

NM_001354046.2

p.S120C

c.359C>G

1 paper

NM_001354046.2

p.G117E

c.350G>A

1 paper

NM_001354046.2

p.H142Q

c.426C>G

1 paper

NM_001354046.2

p.L116L

c.346C>T

1 paper

NM_001354046.2

p.G115R

c.343G>A

1 paper

NM_001354046.2

p.G115R

c.343G>C

1 paper

NM_001354046.2

p.I114F

c.340A>T

1 paper

NM_001354046.2

p.Q150*

c.448C>T