Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.R1122C

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.R1122C
c.3364C>T
Surrounding Variants
1 paper
NM_001111125.3
p.S1123N
c.3368G>A
1 paper
NM_001111125.3
p.V1116L
c.3346G>T
1 paper
NM_001111125.3
p.V1116L
c.3346G>C
5 papers
NM_001111125.3
p.Y1129*
c.3387C>G
5 papers
NM_001111125.3
p.Y1129*
c.3387C>A
1 paper
NM_001111125.3
p.D1133N
c.3397G>A
1 paper
NM_001111125.3
p.P1109L
c.3326C>T
12 papers
NM_001111125.3
p.Q1108*
c.3322C>T
3 papers
NM_001111125.3
p.G1138R
c.3412G>C
1 paper
NM_015075.2
p.G933G
c.2799C>G
3 papers
NM_001111125.3
p.A1139T
c.3415G>A
1 paper
NM_001111125.3
p.N1105Y
c.3313A>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."