Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF2
Variant:p.L318*

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.L318*
c.953T>A
Surrounding Variants
1 paper
NM_001162383.2
p.I315_L318del4
c.943_953del12
1 paper
NM_001162383.2
p.R317C
c.949C>T
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.I315V
c.943A>G
1 paper
NM_001162383.2
p.V314D
c.941T>A
1 paper
NM_001162383.2
p.F313I
c.937T>A
1 paper
NM_001162383.2
p.P307P
c.921T>C
1 paper
NM_001162383.2
p.P307R
c.920C>G
1 paper
NM_001162383.2
p.L305L
c.913C>T
1 paper
NM_001162383.2
p.R302H
c.905G>A
1 paper
NM_001162383.2
p.S295G
c.883A>G
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