Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.I383M

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.I383M
c.1149C>G
Surrounding Variants
1 paper
NM_001111125.3
p.R382L
c.1145G>T
1 paper
NM_001111125.3
p.L385F
c.1153C>T
1 paper
NM_001111125.3
p.M390L
c.1168A>T
1 paper
NM_001111125.3
p.M390L
c.1168A>C
1 paper
NM_001111125.3
p.Q391fs
c.1171_1172fs
2 papers
NM_001111125.3
p.M390insFs
c.1170dupG
1 paper
NM_001111125.3
p.S393F
c.1178C>T
1 paper
NM_001111125.3
p.E368D
c.1104G>T
1 paper
NM_001111125.3
p.E368D
c.1104G>C
1 paper
NM_001111125.3
p.F367S
c.1100T>C
1 paper
NM_001111125.3
p.F367V
c.1099T>G
1 paper
NM_001111125.3
p.N402del1
c.1204_1206delGTT
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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."