Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.A350V

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
33 papers
NM_001111125.3
p.A350V
c.1049C>T
Surrounding Variants
8 papers
NM_001111125.3
p.A350D
c.1049C>A
5 papers
NM_001111125.3
p.A350T
c.1048G>A
1 paper
NM_001111125.3
p.A351delFs
c.1051delC
1 paper
NM_001111125.3
p.A351fs
c.1051_1052fs
1 paper
NM_001111125.3
p.R348C
c.1042C>T
3 papers
NM_001111125.3
p.V334_F345delFs
c.1000_1034del35
1 paper
NM_001111125.3
p.S344delFs
c.1032delG
1 paper
NM_001111125.3
p.F345fs
c.1033_1034fs
2 papers
NM_001111125.3
p.G342R
c.1024G>A
25 papers
NM_001111125.3
p.R359C
c.1075C>T
2 papers
NM_001111125.3
p.R359H
c.1076G>A
1 paper
NM_001111125.3
p.F367V
c.1099T>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."