Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.N765K

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.N765K
c.2295C>G
Surrounding Variants
1 paper
NM_001111125.3
p.N765K
c.2295C>A
2 papers
NM_001111125.3
p.N765D
c.2293A>G
1 paper
NM_001111125.3
p.F764delFs
c.2292delG
2 papers
NM_001111125.3
p.N765del1
c.2293_2294delGTT
1 paper
NM_001111125.3
p.L763L
c.2289C>G
5 papers
NM_001111125.3
p.G760S
c.2278G>A
14 papers
NM_001111125.3
p.R758Q
c.2273G>A
8 papers
NM_001111125.3
p.R758*
c.2272C>T
1 paper
NM_015075.2
p.P540S
c.1618C>T
1 paper
NM_001111125.3
p.P745fs
c.2233_2234fs
1 paper
NM_001111125.3
p.W742*
c.2226G>A
1 paper
NM_001111125.3
p.W742*
c.2225G>A
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."