Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.F367V

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.F367V
c.1099T>G
Surrounding Variants
1 paper
NM_001111125.3
p.F367S
c.1100T>C
1 paper
NM_001111125.3
p.E368D
c.1104G>T
1 paper
NM_001111125.3
p.E368D
c.1104G>C
2 papers
NM_001111125.3
p.R359H
c.1076G>A
25 papers
NM_001111125.3
p.R359C
c.1075C>T
1 paper
NM_001111125.3
p.R382L
c.1145G>T
1 paper
NM_001111125.3
p.A351fs
c.1051_1052fs
1 paper
NM_001111125.3
p.A351delFs
c.1051delC
33 papers
NM_001111125.3
p.A350V
c.1049C>T
1 paper
NM_001111125.3
p.I383M
c.1149C>G
8 papers
NM_001111125.3
p.A350D
c.1049C>A
5 papers
NM_001111125.3
p.A350T
c.1048G>A
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