Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF6
Variant:p.A280G

RAPGEF6

72 papers

Pfam Domains

cNMP_bindingaa 300–383UCSCCyclic nucleotide-binding domain
RasGEF_Naa 415–502UCSCRasGEF N-terminal motif
PDZaa 530–609UCSCPDZ domain
RAaa 749–835UCSCRas association (RalGDS/AF-6) domain
RasGEFaa 863–1041UCSCRasGEF domain

Gene Aliases

HGNC Name

Rap guanine nucleotide exchange factor 6

HGNC Previous Symbol

PDZGEF2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016340.6
p.A280G
c.839C>G
Surrounding Variants
1 paper
NM_016340.6
p.K263N
c.789A>C
1 paper
NM_016340.6
p.R253*
c.757C>T
1 paper
NM_016340.6
p.R249*
c.745C>T
1 paper
NM_016340.6
p.Q247H
c.741G>T
1 paper
NM_016340.6
p.Q247H
c.741G>C
1 paper
NM_016340.6
p.I240_D244delFs
c.720_732del13
1 paper
NM_016340.6
p.I240_D244del5
c.718_731del15
1 paper
NM_016340.6
p.I240V
c.718A>G
1 paper
NM_016340.6
p.G226_E231delFs
c.677_693del17
1 paper
NM_016340.6
p.R222H
c.665G>A
1 paper
NM_016340.6
p.R222C
c.664C>T
1 paper
NM_016340.6
p.E214K
c.640G>A
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