Varaico: Literature-Extracted Genetic Variants

Gene:IQCN
Variant:p.P1188P

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.P1188P
c.3564C>T
Surrounding Variants
1 paper
NM_001145304.2
p.V1189I
c.3565G>A
1 paper
NM_001145304.2
p.W1183*
c.3549G>A
1 paper
NM_001145304.2
p.W1183*
c.3548G>A
1 paper
NM_001145304.2
p.R1181Q
c.3542G>A
1 paper
NM_001145304.2
p.R1204*
c.3610C>T
1 paper
NM_001145304.2
p.A1162A
c.3486C>T
1 paper
NM_001145304.2
p.C1160delFs
c.3478delA
1 paper
NM_001145304.2
p.R1154Q
c.3461G>A
1 paper
NM_001145304.2
p.A1140delFs
c.3419delG
1 paper
NM_001145304.2
p.A1140fs
c.3418_3419fs
1 paper
NM_001145304.2
p.A1140delFs
c.3418delC
1 paper
NM_001145304.2
p.R1138Q
c.3413G>A
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