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

2 papers

NM_001023570.4

p.Q409*

c.1225C>T

Surrounding Variants

1 paper

NM_001023570.4

p.N406delFs

c.1217delT

2 papers

NM_001023570.4

p.L414fs

c.1240_1241fs

1 paper

NM_001023570.4

p.I415fs

c.1243_1244fs

1 paper

NM_001023570.4

p.L414delFs

c.1241_1242delGA

2 papers

NM_001023570.4

p.I415delFs

c.1244_1245delTA

1 paper

NM_001023570.4

p.A419T

c.1255G>A

1 paper

NM_001023570.4

p.W398*

c.1194G>A

1 paper

NM_001023570.4

p.W398*

c.1193G>A

1 paper

NM_001023570.4

p.H397Y

c.1189C>T

1 paper

NM_001023570.4

p.Q424R

c.1271A>G

14 papers

NM_001023570.4

p.I393N

c.1178T>A

11 papers

NM_001023570.4

p.Q424_R425del2

c.1270_1274del6