Varaico: Literature-Extracted Genetic Variants

Gene:IQCB1

IQCB1

242 papers

RefSeq Summary

This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-b...

Pfam Domains

IQaa 295–315UCSCIQ calmodulin-binding motif
IQaa 295–315UCSCIQ calmodulin-binding motif
IQaa 388–408UCSCIQ calmodulin-binding motif
IQaa 388–408UCSCIQ calmodulin-binding motif

Gene Aliases

HGNC Name

IQ motif containing B1

HGNC Alias Symbols

KIAA0036; NPHP5; SLSN5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 242 variants
21 papers
NM_001023570.4
p.R364*
c.1090C>T
19 papers
NM_001023570.4
p.F141delFs
c.421_422delAA
19 papers
NM_001023570.4
p.H506_R507delFs
c.1518_1519delTG
18 papers
NM_001023570.4
p.R461*
c.1381C>T
16 papers
NM_001023570.4
p.R489*
c.1465C>T
14 papers
NM_001023570.4
p.I393N
c.1178T>A
12 papers
NM_001023570.4
p.R332*
c.994C>T
11 papers
NM_001023570.4
p.Q424_R425del2
c.1270_1274del6
10 papers
NM_001023570.4
p.R502*
c.1504C>T
9 papers
NM_001023570.4
p.H506fs
c.1516_1517fs
7 papers
NM_001023570.4
p.F142fs
c.424_425fs
7 papers
NM_001023570.4
p.E346*
c.1036G>T
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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."