Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF3
Variant:p.C524W

RAPGEF3

93 papers

Pfam Domains

DEPaa 114–184UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
cNMP_bindingaa 264–349UCSCCyclic nucleotide-binding domain
RasGEF_Naa 387–493UCSCRasGEF N-terminal motif
RasGEFaa 665–843UCSCRasGEF domain

Gene Aliases

HGNC Name

Rap guanine nucleotide exchange factor 3

HGNC Alias Symbols

cAMP-GEFI; EPAC; bcm910

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001098531.4
p.C524W
c.1572T>G
Surrounding Variants
1 paper
NM_001098531.4
p.A527T
c.1579G>A
1 paper
NM_001098531.4
p.R519Splc
c.1557-6C>T
1 paper
NM_001098531.4
p.R516*
c.1546C>T
1 paper
NM_001098531.4
p.N505Y
c.1513A>T
1 paper
NM_001098531.4
p.V485M
c.1453G>A
1 paper
NM_001098531.4
p.W472C
c.1416G>T
1 paper
NM_001098531.4
p.W472C
c.1416G>C
1 paper
NM_001098531.4
p.W472L
c.1415G>T
1 paper
NM_001098531.4
p.V458A
c.1373T>C
1 paper
NM_001098531.4
p.Y457C
c.1370A>G
1 paper
NM_001098531.4
p.E453K
c.1357G>A
1 paper
NM_001098531.4
p.A447V
c.1340C>T
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