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

1–12 of 300 variants

8 papers

NM_001354046.2

p.Q546K

c.1636C>A

4 papers

NM_001354046.2

p.Q546R

c.1637A>G

4 papers

NM_001354046.2

p.L576P

c.1727T>C

3 papers

NM_001354046.2

p.K55_V56Splc

c.165+1G>C

3 papers

NM_001354046.2

p.K55_V56Splc

c.166-2A>G

3 papers

NM_001354046.2

p.R129H

c.386G>A

3 papers

NM_001354046.2

p.F184_S185insFs

c.552_553ins4

3 papers

NM_001354046.2

p.S185fs

c.553_554fs

3 papers

NM_001354046.2

p.K235T

c.704A>C

3 papers

NM_001354046.2

p.G240A

c.719G>C

3 papers

NM_001354046.2

p.Q305*

c.913C>T

3 papers

NM_001354046.2

p.K317Splc

c.951-1G>C