Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.Q1033*

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
12 papers
NM_001111125.3
p.Q1033*
c.3097C>T
Surrounding Variants
3 papers
NM_001111125.3
p.L1027delFs
c.3079delG
4 papers
NM_001111125.3
p.L1027fs
c.3079_3080fs
2 papers
NM_001111125.3
p.R1022H
c.3065G>A
2 papers
NM_001111125.3
p.L1016F
c.3048G>T
2 papers
NM_001111125.3
p.L1016F
c.3048G>C
3 papers
NM_001111125.3
p.K1012E
c.3034A>G
2 papers
NM_001111125.3
p.Q1011H
c.3033G>T
2 papers
NM_001111125.3
p.Q1011H
c.3033G>C
2 papers
NM_001111125.3
p.F1010L
c.3030C>G
2 papers
NM_001111125.3
p.F1010L
c.3030C>A
2 papers
NM_001111125.3
p.F1010L
c.3028T>C
1 paper
NM_001111125.3
p.V1005_V1006Splc
c.3016-1G>T
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."