Varaico: Literature-Extracted Genetic Variants

Gene:IQCN
Variant:p.K1059_G1060Splc

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.K1059_G1060Splc
c.3178-53C>T
Surrounding Variants
1 paper
NM_001145304.2
p.K1059_G1060Splc
c.3178-72C>T
1 paper
NM_001145304.2
p.S1071L
c.3212C>T
1 paper
NM_001145304.2
p.A1083A
c.3249G>A
2 papers
NM_001145304.2
p.R1089C
c.3265C>T
1 paper
NM_001145304.2
p.A1092V
c.3275C>T
1 paper
NM_001145304.2
p.K1059_G1060Splc
c.3178-204C>T
4 papers
NM_001145304.2
p.P1095H
c.3284C>A
1 paper
NM_001145304.2
p.P1095delFs
c.3285delA
1 paper
NM_001145304.2
p.Q1107*
c.3319C>T
1 paper
NM_001145304.2
p.E1111G
c.3332A>G
1 paper
NM_001145304.2
p.I1112fs
c.3334_3335fs
1 paper
NM_001145304.2
p.I1112_R1113delFs
c.3336_3339del4
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."