Varaico: Literature-Extracted Genetic Variants

Gene:IQCE
Variant:p.E307V

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.E307V
c.920A>T
Surrounding Variants
3 papers
NM_152558.5
p.V301fs
c.901_902fs
1 paper
NM_152558.5
p.S300fs
c.898_899fs
6 papers
NM_152558.5
p.R299_Q302delFs
c.895_904del10
1 paper
NM_152558.5
p.V318E
c.953T>A
1 paper
NM_152558.5
p.G330Splc
c.988+1G>T
1 paper
NM_152558.5
p.T282M
c.845C>T
1 paper
NM_152558.5
p.S335_R338del4
c.1003_1013del12
1 paper
NM_152558.5
p.P337L
c.1010C>T
1 paper
NM_152558.5
p.L339_R341del3
c.1015_1022del9
1 paper
NM_152558.5
p.R341K
c.1022G>A
1 paper
NM_152558.5
p.R342L
c.1025G>T
1 paper
NM_152558.5
p.L346_K348delFs
c.1038_1042del5
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