Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF2
Variant:p.A348V

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
2 papers
NM_001162383.2
p.A348V
c.1043C>T
Surrounding Variants
1 paper
NM_001162383.2
p.S346N
c.1037G>A
1 paper
NM_001162383.2
p.S346G
c.1036A>G
1 paper
NM_001162383.2
p.R344delFs
c.1031delC
1 paper
NM_001162383.2
p.R344L
c.1031G>T
1 paper
NM_001162383.2
p.Y352_L355delFs
c.1055_1064del10
1 paper
NM_001162383.2
p.S339L
c.1016C>T
1 paper
NM_001162383.2
p.R361G
c.1081C>G
1 paper
NM_001162383.2
p.S330delFs
c.990delA
1 paper
NM_001162383.2
p.L321L
c.961C>T
1 paper
NM_001162383.2
p.D320del1
c.958_960delATC
1 paper
NM_001162383.2
p.I315_L318del4
c.943_953del12
1 paper
NM_001162383.2
p.L318*
c.953T>A
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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."