Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.Q847*

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.Q847*
c.2539C>T
Surrounding Variants
1 paper
NM_001111125.3
p.E849_A850insG
c.2545_2549ins3
11 papers
NM_001111125.3
p.E849K
c.2545G>A
1 paper
NM_001111125.3
p.Q847_G848del2
c.2539_2543del6
1 paper
NM_001111125.3
p.R845W
c.2533C>T
3 papers
NM_001111125.3
p.E849A
c.2546A>C
1 paper
NM_001111125.3
p.Q851P
c.2552A>C
1 paper
NM_001111125.3
p.Q841*
c.2521C>T
17 papers
NM_001111125.3
p.R855*
c.2563C>T
12 papers
NM_001111125.3
p.A836V
c.2507C>T
1 paper
NM_001111125.3
p.A836G
c.2507C>G
1 paper
NM_001111125.3
p.F860fs
c.2578_2579fs
1 paper
NM_001111125.3
p.F860S
c.2579T>C
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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."