Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF3

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
1–12 of 94 variants
4 papers
NM_001098531.4
p.L300P
c.899T>C
3 papers
NM_001098531.4
p.A16P
c.46G>C
2 papers
NM_001098531.4
p.A436T
c.1306G>A
2 papers
NM_001098531.4
p.R566W
c.1696C>T
2 papers
NM_001098531.4
p.S857N
c.2570G>A
2 papers
NM_001098531.4
p.R916Fs
c.2747delinsCGFs
1 paper
NM_001098531.4
p.W5R
c.13T>C
1 paper
NM_001098531.4
p.W5R
c.13T>A
1 paper
NM_001098531.4
p.W5*
c.15G>A
1 paper
NM_001098531.4
p.V13fs
c.37_38fs
1 paper
NM_001098531.4
p.V13fs
c.37_38fs
1 paper
NM_001098531.4
p.V13_G14delFs
c.38_41del4
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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."