Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.M390insFs

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
2 papers
NM_001111125.3
p.M390insFs
c.1170dupG
Surrounding Variants
1 paper
NM_001111125.3
p.Q391fs
c.1171_1172fs
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.S393F
c.1178C>T
1 paper
NM_001111125.3
p.L385F
c.1153C>T
1 paper
NM_001111125.3
p.I383M
c.1149C>G
1 paper
NM_001111125.3
p.R382L
c.1145G>T
1 paper
NM_001111125.3
p.N402del1
c.1204_1206delGTT
1 paper
NM_015075.2
p.Q196_K204delFs
c.588_610del23
1 paper
NM_015075.2
p.E193_K204delFs
c.577_610del34
1 paper
NM_001111125.3
p.P410fs
c.1228_1229fs
1 paper
NM_001111125.3
p.P410delFs
c.1229delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."