Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF2
Variant:p.K80T

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.K80T
c.239A>C
Surrounding Variants
1 paper
NM_001162383.2
p.K80K
c.240A>G
1 paper
NM_001162383.2
p.L83I
c.247C>A
1 paper
NM_001162383.2
p.I75_H76del2
c.223_227del6
1 paper
NM_001162383.2
p.N77insFs
c.229_230ins10
1 paper
NM_001162383.2
p.A84T
c.250G>A
1 paper
NM_001162383.2
p.H76H
c.228C>T
1 paper
NM_001162383.2
p.N85insFs
c.254_255insT
1 paper
NM_001162383.2
p.L83_N85delFs
c.247_253del7
1 paper
NM_001162383.2
p.I75L
c.223A>C
2 papers
NM_001162383.2
p.C86Y
c.257G>A
1 paper
NM_001162383.2
p.V73V
c.219G>T
1 paper
NM_001162383.2
p.V89A
c.266T>C
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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."