Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF3
Variant:p.I837L

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.I837L
c.2509A>C
Surrounding Variants
1 paper
NM_001098531.4
p.V833L
c.2497G>T
1 paper
NM_001098531.4
p.F824S
c.2471T>C
1 paper
NM_001098531.4
p.P810L
c.2429C>T
1 paper
NM_001098531.4
p.R801*
c.2401C>T
2 papers
NM_001098531.4
p.S857N
c.2570G>A
1 paper
NM_001098531.4
p.R798W
c.2392C>T
1 paper
NM_001098531.4
p.H874Fs
c.2621delinsCGFs
1 paper
NM_001098531.4
p.H874insFs
c.2620dupC
1 paper
NM_001098531.4
p.E875*
c.2623G>T
1 paper
NM_001098531.4
p.Q888*
c.2662C>T
1 paper
NM_001098531.4
p.R893W
c.2677C>T
1 paper
NM_001098531.4
p.R893Q
c.2678G>A
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