Varaico: Literature-Extracted Genetic Variants

Gene:IQCB1
Variant:p.R502*

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
Selected Variant
10 papers
NM_001023570.4
p.R502*
c.1504C>T
Surrounding Variants
9 papers
NM_001023570.4
p.H506fs
c.1516_1517fs
4 papers
NM_001023570.4
p.H506fs
c.1516_1517fs
1 paper
NM_001023570.4
p.H506delFs
c.1518delG
2 papers
NM_001023570.4
p.H506del1
c.1516_1517delGTG
20 papers
NM_001023571.4
p.H373_R374delFs
c.1119_1120delTG
NM_001023570.4
p.H506_R507delFs
c.1518_1519delTG
2 papers
NM_001023570.4
p.E508insFs
c.1523_1524insGA
3 papers
NM_001023570.4
p.E508insFs
c.1522_1523dupGA
3 papers
NM_001023570.4
p.A509fs
c.1525_1526fs
3 papers
NM_001023570.4
p.Y493*
c.1479C>G
3 papers
NM_001023570.4
p.Y493*
c.1479C>A
2 papers
NM_001023570.4
p.A512insFs
c.1535_1536ins5
1 paper
NM_001023570.4
p.A512A
c.1536A>G
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