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.K55_V56Splc

c.166-2A>G

Surrounding Variants

1 paper

NM_001354046.2

p.E59*

c.175G>T

1 paper

NM_001354046.2

p.R61W

c.181C>T

1 paper

NM_001354046.2

p.E65_C66ins4

c.193_197ins12

1 paper

NM_001354046.2

p.I70delFs

c.210delC

1 paper

NM_001354046.2

p.E72_F73insFs

c.216_217insA

1 paper

NM_001354046.2

p.L74V

c.220C>G

1 paper

NM_001354046.2

p.K55_V56Splc

c.166-60C>T

1 paper

NM_001354046.2

p.G76_C77insFs

c.228_229insA

1 paper

NM_001354046.2

p.C77Y

c.230G>A

1 paper

NM_001354046.2

p.C77W

c.231C>G

1 paper

NM_001354046.2

p.A79T

c.235G>A

1 paper

NM_001354046.2

p.S80F

c.239C>T