Varaico: Literature-Extracted Genetic Variants

Gene:IQCN
Variant:p.P835L

IQCN

80 papers

Pfam Domains

IQaa 104–124UCSCIQ calmodulin-binding motif
IQaa 104–124UCSCIQ calmodulin-binding motif
IQaa 928–947UCSCIQ calmodulin-binding motif
IQaa 928–947UCSCIQ calmodulin-binding motif
IQaa 950–969UCSCIQ calmodulin-binding motif
IQaa 950–969UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

IQ motif containing N

HGNC Previous Symbol

KIAA1683

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001145304.2
p.P835L
c.2504C>T
Surrounding Variants
2 papers
NM_001145304.2
p.N845N
c.2535C>T
4 papers
NM_001145304.2
p.Q818delFs
c.2453_2454delCT
4 papers
NM_001145304.2
p.Q818fs
c.2452_2453fs
1 paper
NM_001145304.2
p.Q818E
c.2452C>G
1 paper
NM_001145304.2
p.G853R
c.2557G>C
1 paper
NM_001145304.2
p.G853R
c.2557G>A
2 papers
NM_001145304.2
p.R856C
c.2566C>T
1 paper
NM_001145304.2
p.R856H
c.2567G>A
2 papers
NM_001145304.2
p.P862H
c.2585C>A
2 papers
NM_001145304.2
p.Q864E
c.2590C>G
2 papers
NM_001145304.2
p.V873I
c.2617G>A
2 papers
NM_001145304.2
p.W796*
c.2388G>A
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