Varaico: Literature-Extracted Genetic Variants

Gene:IQCN
Variant:p.L253V

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.L253V
c.757C>G
Surrounding Variants
1 paper
NM_001145304.2
p.P250S
c.748C>T
1 paper
NM_001145304.2
p.L235delFs
c.703delG
3 papers
NM_001145304.2
p.L235V
c.703C>G
1 paper
NM_001145304.2
p.T281delFs
c.842delG
4 papers
NM_001145304.2
p.S285T
c.854G>C
3 papers
NM_001145304.2
p.Q304*
c.910C>T
1 paper
NM_001145304.2
p.E191K
c.571G>A
1 paper
NM_001145304.2
p.K190K
c.570G>A
1 paper
NM_001145304.2
p.M187V
c.559A>G
1 paper
NM_001145304.2
p.E321D
c.963G>T
1 paper
NM_001145304.2
p.E321D
c.963G>C
1 paper
NM_001145304.2
p.L182L
c.546G>A
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