Varaico: Literature-Extracted Genetic Variants

Gene:RAPGEF6
Variant:p.T325S

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.T325S
c.974C>G
Surrounding Variants
1 paper
NM_016340.6
p.T325S
c.973A>T
1 paper
NM_016340.6
p.E327D
c.981A>T
1 paper
NM_016340.6
p.E327D
c.981A>C
1 paper
NM_016340.6
p.Q353R
c.1058A>G
1 paper
NM_016340.6
p.R378K
c.1133G>A
3 papers
NM_016340.6
p.H388R
c.1163A>G
1 paper
NM_016340.6
p.G394R
c.1180G>A
2 papers
NM_016340.6
p.E395K
c.1183G>A
1 paper
NM_016340.6
p.H414R
c.1241A>G
1 paper
NM_016340.6
p.A280G
c.839C>G
1 paper
NM_016340.6
p.K263N
c.789A>C
1 paper
NM_016340.6
p.R253*
c.757C>T
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