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

12 papers

NM_001023570.4

p.R332*

c.994C>T

Surrounding Variants

1 paper

NM_001023570.4

p.K334Q

c.1000A>C

1 paper

NM_001023570.4

p.R341M

c.1022G>T

1 paper

NM_001023570.4

p.E344*

c.1030G>T

7 papers

NM_001023570.4

p.E346*

c.1036G>T

1 paper

NM_001023570.4

p.L354F

c.1060C>T

3 papers

NM_001023570.4

p.R356*

c.1066A>T

3 papers

NM_001023570.4

p.Q357*

c.1069C>T

1 paper

NM_001023570.4

p.R358fs

c.1072_1073fs

1 paper

NM_001023570.4

p.A359insFs

c.1075_1076insAG

3 papers

NM_001023570.4

p.R358_A359insFs

c.1074_1075dupAG

1 paper

NM_001023570.4

p.R358_A359delFs

c.1072_1075del4

1 paper

NM_001023570.4

p.A359_M360insFs

c.1077_1078insAG