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.G240A

c.719G>C

Surrounding Variants

2 papers

NM_001354046.2

p.G240E

c.719G>A

1 paper

NM_001354046.2

p.T244insFs

c.730_731insT

3 papers

NM_001354046.2

p.K235T

c.704A>C

1 paper

NM_001354046.2

p.K235_S236delins

c.704_706delinsTAG

1 paper

NM_001354046.2

p.K235*

c.703A>T

1 paper

NM_001354046.2

p.L234L

c.700C>T

1 paper

NM_001354046.2

p.K248E

c.742A>G

1 paper

NM_001354046.2

p.K248I

c.743A>T

1 paper

NM_001354046.2

p.S249C

c.745A>T

1 paper

NM_001354046.2

p.K230R

c.689A>G

1 paper

NM_001354046.2

p.P229H

c.686C>A

1 paper

NM_001354046.2

p.N252S

c.755A>G