Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF2
Variant:p.E5_S6del1

ARHGEF2

462 papers

RefSeq Summary

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with ...

Pfam Domains

RhoGEFaa 239–430UCSCRhoGEF domain
PH_16aa 458–571UCSCPH domain

Gene Aliases

HGNC Name

Rho/Rac guanine nucleotide exchange factor 2

HGNC Alias Symbols

LFP40; GEF-H1; KIAA0651; P40; Lfc; GEFH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001162383.2
p.E5_S6del1
c.14_16delATT
Surrounding Variants
1 paper
NM_001162383.2
p.S6Y
c.17C>A
1 paper
NM_001162383.2
p.E5D
c.15A>T
1 paper
NM_001162383.2
p.I4I
c.12C>T
1 paper
NM_001162383.2
p.I4I
c.12C>A
1 paper
NM_001162383.2
p.T8A
c.22A>G
1 paper
NM_001162383.2
p.T8P
c.22A>C
1 paper
NM_001162383.2
p.T8M
c.23C>T
1 paper
NM_001162383.2
p.T8R
c.23C>G
1 paper
NM_001162383.2
p.M1insFs
c.3dupG
1 paper
NM_001162383.2
p.M1T
c.2T>C
1 paper
NM_001162383.2
p.M1K
c.2T>A
1 paper
NM_001162383.2
p.R11fs
c.31_32fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."