Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.S450S

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.S450S
c.1350T>C
Surrounding Variants
2 papers
NM_001111125.3
p.T449T
c.1347A>G
1 paper
NM_001111125.3
p.G444R
c.1330G>C
1 paper
NM_001111125.3
p.D441N
c.1321G>A
1 paper
NM_001111125.3
p.Q467*
c.1399C>T
1 paper
NM_001111125.3
p.Q467_V468Splc
c.1401+2T>G
1 paper
NM_001111125.3
p.Y432insFs
c.1296dupT
1 paper
NM_001111125.3
p.E415_G416delFs
c.1245_1246delCC
1 paper
NM_001111125.3
p.P410fs
c.1228_1229fs
1 paper
NM_001111125.3
p.P410delFs
c.1229delG
1 paper
NM_015075.2
p.Q196_K204delFs
c.588_610del23
1 paper
NM_015075.2
p.E193_K204delFs
c.577_610del34
1 paper
NM_001111125.3
p.N402del1
c.1204_1206delGTT
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