Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.Q773*

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
6 papers
NM_001111125.3
p.Q773*
c.2317C>T
Surrounding Variants
5 papers
NM_001111125.3
p.Q773fs
c.2317_2318fs
5 papers
NM_001111125.3
p.G771D
c.2312G>A
2 papers
NM_001111125.3
p.E777*
c.2329G>T
1 paper
NM_001111125.3
p.E769Q
c.2305G>C
4 papers
NM_001111125.3
p.Q773_R778delFs
c.2317_2332del16
1 paper
NM_001111125.3
p.R778_G779delFs
c.2332_2336del5
3 papers
NM_001111125.3
p.P785L
c.2354C>T
10 papers
NM_001111125.3
p.A789V
c.2366C>T
1 paper
NM_001111125.3
p.F791L
c.2371T>C
1 paper
NM_001111125.3
p.F791L
c.2373C>G
1 paper
NM_001111125.3
p.F791L
c.2373C>A
1 paper
NM_001111125.3
p.R795W
c.2383C>T
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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."