Varaico: Literature-Extracted Genetic Variants

Gene:IQCN
Variant:p.S546F

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
1 paper
NM_001145304.2
p.S546F
c.1637C>T
Surrounding Variants
1 paper
NM_001145304.2
p.A554S
c.1660G>T
1 paper
NM_001145304.2
p.N559D
c.1675A>G
1 paper
NM_001145304.2
p.V567V
c.1701G>A
1 paper
NM_001145304.2
p.K568Q
c.1702A>C
2 papers
NM_001145304.2
p.T524A
c.1570A>G
1 paper
NM_001145304.2
p.Q585*
c.1753C>T
1 paper
NM_001145304.2
p.T504T
c.1512C>T
1 paper
NM_001145304.2
p.E602V
c.1805A>T
1 paper
NM_001145304.2
p.K605E
c.1813A>G
3 papers
NM_001145304.2
p.T610P
c.1828A>C
1 paper
NM_001145304.2
p.A614V
c.1841C>T
1 paper
NM_001145304.2
p.A451A
c.1353A>G
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