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.E313G

c.938A>G

Surrounding Variants

1 paper

NM_001354046.2

p.K317R

c.950A>G

1 paper

NM_001354046.2

p.V309I

c.925G>A

1 paper

NM_001354046.2

p.Q305Q

c.915G>A

3 papers

NM_001354046.2

p.Q305*

c.913C>T

1 paper

NM_001354046.2

p.Y293N

c.877T>A

1 paper

NM_001354046.2

p.R278L

c.833G>T

1 paper

NM_001354046.2

p.L273_S274insA

c.817_821ins3

1 paper

NM_001354046.2

p.V272M

c.814G>A

1 paper

NM_001354046.2

p.T271_V272insT

c.811_815ins3

1 paper

NM_001354046.2

p.E264D

c.792A>C

1 paper

NM_001354046.2

p.E264D

c.792A>T

1 paper

NM_001354046.2

p.N263K

c.789T>A