Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF2
Variant:p.S149R

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.S149R
c.447T>G
Surrounding Variants
1 paper
NM_001162383.2
p.S149R
c.447T>A
1 paper
NM_001162383.2
p.V150A
c.449T>C
1 paper
NM_001162383.2
p.S149R
c.445A>C
2 papers
NM_001162383.2
p.S151A
c.451T>G
1 paper
NM_001162383.2
p.V150delFs
c.449delA
1 paper
NM_001162383.2
p.A147P
c.439G>C
1 paper
NM_001162383.2
p.T153A
c.457A>G
2 papers
NM_001162383.2
p.S143delFs
c.428delG
1 paper
NM_001162383.2
p.A156P
c.466G>C
1 paper
NM_001162383.2
p.S143A
c.427T>G
1 paper
NM_001162383.2
p.T153_A156delFs
c.457_467del11
1 paper
NM_001162383.2
p.R141H
c.422G>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."