Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF2
Variant:p.L135V

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.L135V
c.403C>G
Surrounding Variants
1 paper
NM_001162383.2
p.L135P
c.404T>C
1 paper
NM_001162383.2
p.S133P
c.397T>C
1 paper
NM_001162383.2
p.R131W
c.391C>T
1 paper
NM_001162383.2
p.G140A
c.419G>C
1 paper
NM_001162383.2
p.R141H
c.422G>A
1 paper
NM_001162383.2
p.D128G
c.383A>G
1 paper
NM_001162383.2
p.S127Y
c.380C>A
1 paper
NM_001162383.2
p.S143A
c.427T>G
1 paper
NM_001162383.2
p.S127A
c.379T>G
2 papers
NM_001162383.2
p.S143delFs
c.428delG
1 paper
NM_001162383.2
p.A123D
c.368C>A
1 paper
NM_001162383.2
p.A147P
c.439G>C
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