Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF3
Variant:p.P730T

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.P730T
c.2188C>A
Surrounding Variants
1 paper
NM_001098531.4
p.A742V
c.2225C>T
1 paper
NM_001098531.4
p.D698N
c.2092G>A
1 paper
NM_001098531.4
p.H744Splc
c.2232-7C>T
1 paper
NM_001098531.4
p.H744Q
c.2232C>G
1 paper
NM_001098531.4
p.H744Q
c.2232C>A
1 paper
NM_001098531.4
p.L660Q
c.1979T>A
1 paper
NM_001098531.4
p.A765T
c.2293G>A
1 paper
NM_001098531.4
p.R781W
c.2341C>T
1 paper
NM_001098531.4
p.R798W
c.2392C>T
1 paper
NM_001098531.4
p.R801*
c.2401C>T
1 paper
NM_001098531.4
p.P810L
c.2429C>T
1 paper
NM_001098531.4
p.F824S
c.2471T>C
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