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.N540K

c.1620C>G

Surrounding Variants

2 papers

NM_001354046.2

p.N540K

c.1620C>A

1 paper

NM_001354046.2

p.Q543R

c.1628A>G

8 papers

NM_001354046.2

p.Q546K

c.1636C>A

1 paper

NM_001354046.2

p.Q546E

c.1636C>G

3 papers

NM_001354046.2

p.Q546P

c.1637A>C

4 papers

NM_001354046.2

p.Q546R

c.1637A>G

1 paper

NM_001354046.2

p.Q546H

c.1638G>C

1 paper

NM_001354046.2

p.Q546H

c.1638G>T

1 paper

NM_001354046.2

p.Q555*

c.1663C>T

1 paper

NM_001354046.2

p.V561V

c.1683G>T

1 paper

NM_001113511.2

p.N584delFs

c.1751_1752delAC

1 paper

NM_001113511.2

p.N584fs

c.1750_1751fs