Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.S713delFs

IQSEC2

255 papers

RefSeq Summary

This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The encoded protein is a component of the postsynaptic density at excitatory synapses, and may ...

Pfam Domains

Sec7aa 753–941UCSCSec7 domain
Sec7aa 753–941UCSCSec7 domain
IQ_SEC7_PHaa 961–1098UCSCPH domain

Gene Aliases

HGNC Name

IQ motif and Sec7 domain ArfGEF 2

HGNC Previous Symbols

MRX1; MRX78; MRX18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001111125.3
p.S713delFs
c.2139delG
Surrounding Variants
1 paper
NM_001111125.3
p.G714fs
c.2140_2141fs
2 papers
NM_001111125.3
p.N706S
c.2117A>G
1 paper
NM_001111125.3
p.P725L
c.2174C>T
2 papers
NM_001111125.3
p.G728G
c.2184C>G
1 paper
NM_001111125.3
p.L729fs
c.2185_2186fs
1 paper
NM_001111125.3
p.L699F
c.2095C>T
1 paper
NM_001111125.3
p.T727_G728del2
c.2179_2183del6
1 paper
NM_001111125.3
p.G728delFs
c.2184delG
1 paper
NM_015075.2
p.D490N
c.1468G>A
3 papers
NM_001111125.3
p.G693delFs
c.2078delC
3 papers
NM_001111125.3
p.G693V
c.2078G>T
2 papers
NM_001111125.3
p.G693fs
c.2077_2078fs
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