Varaico: Literature-Extracted Genetic Variants

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 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

1 paper

NM_001023570.4

p.T516_N517del2

c.1546_1550del6

Surrounding Variants

1 paper

NM_001023570.4

p.T516_N517delFs

c.1548_1549delTG

3 papers

NM_001023570.4

p.N517Y

c.1549A>T

2 papers

NM_001023570.4

p.Q520*

c.1558C>T

1 paper

NM_001023570.4

p.K523Splc

c.1567+1G>T

1 paper

NM_001023570.4

p.A512A

c.1536A>G

1 paper

NM_001023570.4

p.K523Splc

c.1567+2T>C

2 papers

NM_001023570.4

p.A512insFs

c.1535_1536ins5

3 papers

NM_001023570.4

p.A509fs

c.1525_1526fs

3 papers

NM_001023570.4

p.E508insFs

c.1522_1523dupGA

2 papers

NM_001023570.4

p.E508insFs

c.1523_1524insGA

20 papers

NM_001023571.4

p.H373_R374delFs

c.1119_1120delTG

NM_001023570.4

p.H506_R507delFs

c.1518_1519delTG

1 paper

NM_001023570.4

p.H506delFs

c.1518delG