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.F141del1

c.421_422delAAA

Surrounding Variants

1 paper

NM_001023570.4

p.F142L

c.426C>G

7 papers

NM_001023570.4

p.F142fs

c.424_425fs

1 paper

NM_001023570.4

p.F142L

c.426C>A

19 papers

NM_001023570.4

p.F141delFs

c.421_422delAA

1 paper

NM_001023570.4

p.Q143*

c.427C>T

1 paper

NM_001023570.4

p.F142L

c.424T>C

5 papers

NM_001023570.4

p.F142fs

c.424_425fs

1 paper

NM_001023570.4

p.L149fs

c.445_446fs

2 papers

NM_001023570.4

p.L149fs

c.445_446fs

1 paper

NM_001023570.4

p.L149_F150delFs

c.445_448del4

1 paper

NM_001023570.4

p.W151G

c.451T>G

1 paper

NM_001023570.4

p.L152R

c.455T>G