Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.M957T

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.M957T
c.2870T>C
Surrounding Variants
2 papers
NM_001111125.3
p.R956H
c.2867G>A
2 papers
NM_001111125.3
p.A953T
c.2857G>A
4 papers
NM_001111125.3
p.Q952*
c.2854C>T
3 papers
NM_001111125.3
p.S949_V951delFs
c.2846_2852del7
2 papers
NM_015075.2
p.P758S
c.2272C>T
2 papers
NM_001111125.3
p.P963_V964Splc
c.2889+1G>A
2 papers
NM_001111125.3
p.S949C
c.2846C>G
3 papers
NM_001111125.3
p.S949fs
c.2845_2846fs
1 paper
NM_001111125.3
p.N944_D945ins5
c.2830_2834ins15
1 paper
NM_001111125.3
p.N944_D945ins10
c.2830_2834ins30
1 paper
NM_001111125.3
p.R939H
c.2816G>A
1 paper
NM_001111125.3
p.Q937delFs
c.2810delT
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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."