Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.P725L

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
1 paper
NM_001111125.3
p.P725L
c.2174C>T
Surrounding Variants
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.T727_G728del2
c.2179_2183del6
1 paper
NM_001111125.3
p.G728delFs
c.2184delG
8 papers
NM_001111125.3
p.Q735*
c.2203C>T
1 paper
NM_001111125.3
p.Y734delFs
c.2201_2202delGT
1 paper
NM_001111125.3
p.G714fs
c.2140_2141fs
2 papers
NM_001111125.3
p.S713delFs
c.2139delG
1 paper
NM_001111125.3
p.E737G
c.2210A>G
1 paper
NM_001111125.3
p.W742*
c.2225G>A
1 paper
NM_001111125.3
p.W742*
c.2226G>A
2 papers
NM_001111125.3
p.N706S
c.2117A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."