Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.D565D

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.D565D
c.1695C>T
Surrounding Variants
2 papers
NM_001111125.3
p.R563Q
c.1688G>A
1 paper
NM_001111125.3
p.R568H
c.1703G>A
1 paper
NM_001111125.3
p.G561R
c.1681G>C
1 paper
NM_001111125.3
p.G561R
c.1681G>A
1 paper
NM_001111125.3
p.G575insFs
c.1724dupG
1 paper
NM_015075.2
p.P334_P345delFs
c.1000_1034del35
4 papers
NM_001111125.3
p.R582fs
c.1744_1745fs
2 papers
NM_001111125.3
p.A547T
c.1639G>A
1 paper
NM_001111125.3
p.W546_A547delins
c.1638_1639delinsAA
4 papers
NM_001111125.3
p.W546*
c.1638G>A
1 paper
NM_001111125.3
p.W546S
c.1637G>C
3 papers
NM_001111125.3
p.W546*
c.1637G>A
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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."