Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2

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
1–12 of 474 variants
33 papers
NM_001111125.3
p.A350V
c.1049C>T
25 papers
NM_001111125.3
p.R359C
c.1075C>T
19 papers
NM_001111125.3
p.Q801P
c.2402A>C
17 papers
NM_001111125.3
p.R855*
c.2563C>T
15 papers
NM_001111125.3
p.R863W
c.2587C>T
15 papers
NM_001111125.3
p.R1055*
c.3163C>T
14 papers
NM_001111125.3
p.R758Q
c.2273G>A
12 papers
NM_001111125.3
p.A836V
c.2507C>T
12 papers
NM_001111125.3
p.Q1033*
c.3097C>T
12 papers
NM_001111125.3
p.Q1108*
c.3322C>T
11 papers
NM_001111125.3
p.E849K
c.2545G>A
11 papers
NM_001111125.3
p.R926*
c.2776C>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."