Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF3
Variant:p.S252L

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.S252L
c.755C>T
Surrounding Variants
1 paper
NM_001098531.4
p.R255Q
c.764G>A
1 paper
NM_001098531.4
p.L273W
c.818T>G
1 paper
NM_001098531.4
p.G280fs
c.838_839fs
1 paper
NM_001098531.4
p.L217F
c.649C>T
1 paper
NM_001098531.4
p.G212insFs
c.636dupG
1 paper
NM_001098531.4
p.H195Q
c.585T>G
1 paper
NM_001098531.4
p.H195Q
c.585T>A
1 paper
NM_001098531.4
p.R193delFs
c.578delC
1 paper
NM_001098531.4
p.R193G
c.577A>G
1 paper
NM_001098531.4
p.E190K
c.568G>A
4 papers
NM_001098531.4
p.L300P
c.899T>C
1 paper
NM_001098531.4
p.A179V
c.536C>T
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