Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF3
Variant:p.F334L

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.F334L
c.1000T>C
Surrounding Variants
1 paper
NM_001098531.4
p.F334L
c.1002C>G
1 paper
NM_001098531.4
p.F334L
c.1002C>A
1 paper
NM_001098531.4
p.R336C
c.1006C>T
1 paper
NM_001098531.4
p.R344C
c.1030C>T
1 paper
NM_001098531.4
p.A319V
c.956C>T
4 papers
NM_001098531.4
p.L300P
c.899T>C
1 paper
NM_001098531.4
p.G280fs
c.838_839fs
1 paper
NM_001098531.4
p.L273W
c.818T>G
1 paper
NM_001098531.4
p.R355Q
c.1064G>A
1 paper
NM_001098531.4
p.G360D
c.1079G>A
1 paper
NM_001098531.4
p.R255Q
c.764G>A
1 paper
NM_001098531.4
p.G374S
c.1120G>A
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