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

17 papers

NM_001023570.4

p.R489*

c.1465C>T

NM_001023571.4

p.R356*

c.1066C>T

Surrounding Variants

1 paper

NM_001023570.4

p.A486D

c.1457C>A

3 papers

NM_001023570.4

p.Y493*

c.1479C>G

3 papers

NM_001023570.4

p.Y493*

c.1479C>A

2 papers

NM_001023570.4

p.S479_L482del4

c.1435_1445del12

1 paper

NM_001023570.4

p.L482F

c.1444C>T

6 papers

NM_001023570.4

p.E481K

c.1441G>A

10 papers

NM_001023570.4

p.R502*

c.1504C>T

1 paper

NM_001023570.4

p.P473S

c.1417C>T

9 papers

NM_001023570.4

p.H506fs

c.1516_1517fs

4 papers

NM_001023570.4

p.H506fs

c.1516_1517fs

1 paper

NM_001023570.4

p.H506delFs

c.1518delG

2 papers

NM_001023570.4

p.H506del1

c.1516_1517delGTG