Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF6
Variant:p.S1340*

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.S1340*
c.4019C>G
Surrounding Variants
1 paper
NM_016340.6
p.S1340*
c.4019C>A
1 paper
NM_016340.6
p.D1359G
c.4076A>G
1 paper
NM_016340.6
p.P1382S
c.4144C>T
1 paper
NM_016340.6
p.C1421Y
c.4262G>A
1 paper
NM_016340.6
p.S1435F
c.4304C>T
2 papers
NM_016340.6
p.Q1452R
c.4355A>G
1 paper
NM_016340.6
p.E1291ins2
c.3871_3872ins6
1 paper
NM_016340.6
p.A1552T
c.4654G>A
1 paper
NM_016340.6
p.V1559E
c.4676T>A
1 paper
NM_016340.6
p.A1560T
c.4678G>A
1 paper
NM_016340.6
p.Q1569E
c.4705C>G
1 paper
NM_016340.6
p.N1574D
c.4720A>G
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