Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.R1055*

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
15 papers
NM_001111125.3
p.R1055*
c.3163C>T
Surrounding Variants
1 paper
NM_015075.2
p.E849K
c.2545G>A
1 paper
NM_001111125.3
p.A1063_S1065del3
c.3187_3194del9
6 papers
NM_001111125.3
p.R1069P
c.3206G>C
2 papers
NM_001111125.3
p.R1069Q
c.3206G>A
1 paper
NM_001111125.3
p.D1075N
c.3223G>A
2 papers
NM_001111125.3
p.S1079P
c.3235T>C
1 paper
NM_001111125.3
p.I1080V
c.3238A>G
1 paper
NM_001111125.3
p.Q1084fs
c.3250_3251fs
1 paper
NM_001111125.3
p.V1083insFs
c.3249dupG
1 paper
NM_001111125.3
p.E1085E
c.3255G>A
1 paper
NM_015075.2
p.S888insFs
c.2662dupT
1 paper
NM_001111125.3
p.S1093Splc
c.3277+1G>A
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