Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.P638delFs

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.P638delFs
c.1914delT
Surrounding Variants
1 paper
NM_001111125.3
p.I643T
c.1928T>C
1 paper
NM_001111125.3
p.T631I
c.1892C>T
2 papers
NM_001111125.3
p.S627delFs
c.1881delG
1 paper
NM_001111125.3
p.H629fs
c.1885_1886fs
1 paper
NM_001111125.3
p.E622_D624insFs
c.1865_1871dup7
1 paper
NM_001111125.3
p.D624fs
c.1870_1871fs
1 paper
NM_015075.2
p.P449P
c.1347A>G
1 paper
NM_001111125.3
p.P656S
c.1966C>T
2 papers
NM_001111125.3
p.Y621insFs
c.1861dupT
1 paper
NM_001111125.3
p.R617H
c.1850G>A
1 paper
NM_001111125.3
p.R617delFs
c.1849delG
1 paper
NM_001111125.3
p.R617C
c.1849C>T
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