Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF2
Variant:p.C53R

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
6 papers
NM_001162383.2
p.C53R
c.157T>C
Surrounding Variants
1 paper
NM_001162383.2
p.C53S
c.157T>A
1 paper
NM_001162383.2
p.M50_T51insFs
c.150_151ins4
1 paper
NM_001162383.2
p.A55G
c.164C>G
1 paper
NM_001162383.2
p.M50V
c.148A>G
1 paper
NM_001162383.2
p.S48S
c.144A>T
1 paper
NM_001162383.2
p.K58E
c.172A>G
1 paper
NM_001162383.2
p.S46A
c.136T>G
1 paper
NM_001162383.2
p.I45F
c.133A>T
1 paper
NM_001162383.2
p.I45V
c.133A>G
1 paper
NM_001162383.2
p.T44S
c.131C>G
1 paper
NM_001162383.2
p.A62T
c.184G>A
1 paper
NM_001162383.2
p.T43insFs
c.127_128ins4
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