Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF4

RAPGEF4

79 papers

Pfam Domains

cNMP_bindingaa 61–150UCSCCyclic nucleotide-binding domain
DEPaa 220–289UCSCDomain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
cNMP_bindingaa 375–460UCSCCyclic nucleotide-binding domain
RasGEF_Naa 499–605UCSCRasGEF N-terminal motif
RasGEFaa 555–732UCSCRasGEF domain

Gene Aliases

HGNC Name

Rap guanine nucleotide exchange factor 4

HGNC Alias Symbols

cAMP-GEFII; CGEF2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 92 variants
3 papers
NM_007023.4
p.G706R
c.2116G>A
3 papers
NM_007023.4
p.G706R
c.2116G>C
2 papers
NM_007023.4
p.M165T
c.494T>C
2 papers
NM_007023.4
p.V646F
c.1936G>T
2 papers
NM_007023.4
p.T653M
c.1958C>T
2 papers
NM_007023.4
p.T809S
c.2425A>T
2 papers
NM_007023.4
p.T809S
c.2426C>G
2 papers
NM_007023.4
p.M900_D901Splc
c.2700+1G>A
2 papers
NM_007023.4
p.T940M
c.2819C>T
1 paper
NM_007023.4
p.H8delFs
c.22delC
1 paper
NM_007023.4
p.A7V
c.20C>T
1 paper
NM_007023.4
p.E14G
c.41A>G
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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."