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

2 papers

NM_001354046.2

p.L14Q

c.41T>A

Surrounding Variants

1 paper

NM_001354046.2

p.L14L

c.40C>T

1 paper

NM_001354046.2

p.T13S

c.38C>G

1 paper

NM_001354046.2

p.V16M

c.46G>A

1 paper

NM_001354046.2

p.I12N

c.35T>A

1 paper

NM_001354046.2

p.I12_S19del0

c.36_56del21

1 paper

NM_001354046.2

p.L11L

c.33C>A

1 paper

NM_001354046.2

p.W10R

c.28T>A

1 paper

NM_001354046.2

p.W10R

c.28T>C

1 paper

NM_001354046.2

p.T9insFs

c.27dupG

1 paper

NM_001354046.2

p.S19L

c.56C>T

1 paper

NM_001354046.2

p.T7T

c.21C>T

1 paper

NM_001354046.2

p.K21R

c.62A>G