Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.R926Q

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.R926Q
c.2777G>A
Surrounding Variants
11 papers
NM_001111125.3
p.R926*
c.2776C>T
1 paper
NM_001111125.3
p.I924I
c.2772C>A
1 paper
NM_001111125.3
p.D923N
c.2767G>A
5 papers
NM_001111125.3
p.Y933*
c.2799C>G
3 papers
NM_001111125.3
p.Y933*
c.2799C>A
2 papers
NM_001111125.3
p.V918F
c.2752G>T
1 paper
NM_001111125.3
p.G917Splc
c.2750-2A>G
1 paper
NM_001111125.3
p.Q937fs
c.2809_2810fs
1 paper
NM_001111125.3
p.Q937delFs
c.2810delT
1 paper
NM_001111125.3
p.R939H
c.2816G>A
1 paper
NM_001111125.3
p.N944_D945ins5
c.2830_2834ins15
1 paper
NM_001111125.3
p.N944_D945ins10
c.2830_2834ins30
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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."