Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.I803V

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.I803V
c.2407A>G
Surrounding Variants
19 papers
NM_001111125.3
p.Q801P
c.2402A>C
1 paper
NM_001111125.3
p.R795W
c.2383C>T
2 papers
NM_015075.2
p.G582_L588delFs
c.1744_1763del20
1 paper
NM_001111125.3
p.Q811_K812del2
c.2431_2435del6
1 paper
NM_001111125.3
p.F791L
c.2373C>G
1 paper
NM_001111125.3
p.F791L
c.2373C>A
1 paper
NM_001111125.3
p.F791L
c.2371T>C
10 papers
NM_001111125.3
p.A789V
c.2366C>T
1 paper
NM_001111125.3
p.D820Splc
c.2459+1G>A
3 papers
NM_001111125.3
p.P785L
c.2354C>T
1 paper
NM_001111125.3
p.R778_G779delFs
c.2332_2336del5
2 papers
NM_001111125.3
p.D820Splc
c.2459+21C>T
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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."