Varaico: Literature-Extracted Genetic Variants

Gene:IQCE
Variant:p.E544_A545Splc

IQCE

61 papers

Pfam Domains

IQaa 543–563UCSCIQ calmodulin-binding motif
IQaa 602–622UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

IQ motif containing E

HGNC Alias Symbol

KIAA1023

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152558.5
p.E544_A545Splc
c.1632+133T>C
Surrounding Variants
1 paper
NM_152558.5
p.K538_K539Fs
c.1613_1617delinsAFs
1 paper
NM_152558.5
p.K538fs
c.1612_1613fs
1 paper
NM_152558.5
p.K536_K537Splc
c.1609-1G>A
1 paper
NM_152558.5
p.G506insFs
c.1518dupG
1 paper
NM_152558.5
p.P485L
c.1454C>T
1 paper
NM_152558.5
p.A481V
c.1442C>T
3 papers
NM_152558.5
p.A546V
c.1637C>T
2 papers
NM_152558.5
p.L563S
c.1688T>C
2 papers
NM_152558.5
p.P586S
c.1756C>T
2 papers
NM_152558.5
p.R587H
c.1760G>A
1 paper
NM_152558.5
p.T596A
c.1786A>G
1 paper
NM_152558.5
p.A617T
c.1849G>A
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