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.R454C

c.1360C>T

Surrounding Variants

1 paper

NM_001023570.4

p.R454R

c.1362C>T

7 papers

NM_001023570.4

p.R455*

c.1363C>T

1 paper

NM_001023570.4

p.R455Q

c.1364G>A

1 paper

NM_001023571.4

p.T318insFs

c.953_954insC

1 paper

NM_001023570.4

p.Q448fs

c.1342_1343fs

2 papers

NM_001023570.4

p.Q448insFs

c.1342_1343insC

18 papers

NM_001023570.4

p.R461*

c.1381C>T

3 papers

NM_001023570.4

p.R445*

c.1333C>T

1 paper

NM_001023570.4

p.W444*

c.1332G>A

1 paper

NM_001023570.4

p.W444*

c.1331G>A

1 paper

NM_001023570.4

p.R461_D463del3

c.1381_1388del9

1 paper

NM_001023570.4

p.A442S

c.1324G>T