Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.L662fs

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
3 papers
NM_001111125.3
p.L662fs
c.1984_1985fs
Surrounding Variants
2 papers
NM_001111125.3
p.L662Q
c.1985T>A
1 paper
NM_001111125.3
p.L662fs
c.1984_1985fs
6 papers
NM_001111125.3
p.P661_N667delFs
c.1983_1999del17
1 paper
NM_001111125.3
p.P656S
c.1966C>T
1 paper
NM_015075.2
p.P449P
c.1347A>G
1 paper
NM_001111125.3
p.T670A
c.2008A>G
2 papers
NM_015075.2
p.G469delFs
c.1405_1406delCC
1 paper
NM_001111125.3
p.A676delFs
c.2026delC
1 paper
NM_001111125.3
p.I643T
c.1928T>C
10 papers
NM_001111125.3
p.C684*
c.2052C>A
1 paper
NM_001111125.3
p.P638delFs
c.1914delT
10 papers
NM_001111125.3
p.C684_E685delFs
c.2052_2053delCG
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