Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.I888fs

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
5 papers
NM_001111125.3
p.I888fs
c.2662_2663fs
Surrounding Variants
6 papers
NM_001111125.3
p.I888insFs
c.2662dupA
1 paper
NM_001111125.3
p.I888N
c.2663T>A
1 paper
NM_001111125.3
p.A887P
c.2659G>C
1 paper
NM_001111125.3
p.L890F
c.2668C>T
1 paper
NM_001111125.3
p.I889del1
c.2665_2666delGAT
5 papers
NM_001111125.3
p.T893_D894insFs
c.2679_2680insA
2 papers
NM_001111125.3
p.D894fs
c.2680_2681fs
4 papers
NM_001111125.3
p.D894fs
c.2680_2681fs
1 paper
NM_001111125.3
p.R876Q
c.2627G>A
2 papers
NM_015075.2
p.V661_V667delFs
c.1983_1999del17
4 papers
NM_001111125.3
p.R904*
c.2710C>T
1 paper
NM_001111125.3
p.D894_E903del10
c.2680_2708del30
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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."