Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.Q1108*

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
12 papers
NM_001111125.3
p.Q1108*
c.3322C>T
Surrounding Variants
1 paper
NM_001111125.3
p.P1109L
c.3326C>T
1 paper
NM_001111125.3
p.N1105Y
c.3313A>T
1 paper
NM_001111125.3
p.L1095_P1104del0
c.3284_3310del27
1 paper
NM_001111125.3
p.R1103W
c.3307C>T
1 paper
NM_001111125.3
p.M1101fs
c.3301_3302fs
2 papers
NM_001111125.3
p.G1100insFs
c.3300dupT
1 paper
NM_001111125.3
p.V1116L
c.3346G>T
1 paper
NM_001111125.3
p.V1116L
c.3346G>C
1 paper
NM_015075.2
p.Q893_K894insFs
c.2679_2680insA
1 paper
NM_001111125.3
p.Q1098*
c.3292C>T
5 papers
NM_001111125.3
p.R1122C
c.3364C>T
2 papers
NM_001111125.3
p.S1093S
c.3279G>A
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