Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF6
Variant:p.S670insFs

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.S670insFs
c.2009_2010ins11
Surrounding Variants
1 paper
NM_016340.6
p.K678_I679ins5
c.2034_2035ins15
1 paper
NM_016340.6
p.T655A
c.1963A>G
1 paper
NM_016340.6
p.E653K
c.1957G>A
1 paper
NM_016340.6
p.P649A
c.1945C>G
1 paper
NM_016340.6
p.V648V
c.1944G>T
1 paper
NM_016340.6
p.N641K
c.1923T>A
2 papers
NM_016340.6
p.S640fs
c.1918_1919fs
1 paper
NM_016340.6
p.S640delFs
c.1918delT
1 paper
NM_016340.6
p.P633S
c.1897C>T
1 paper
NM_016340.6
p.V614V
c.1842G>T
1 paper
NM_016340.6
p.P720_L732del13
c.2158_2195del39
1 paper
NM_016340.6
p.T737insFs
c.2209_2210insT
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