Varaico: Literature-Extracted Genetic Variants

CNGB1

419 papers

RefSeq Summary

In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP....

Pfam Domains

Ion_transaa 656–890UCSCIon transport protein

cNMP_bindingaa 980–1069UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

cyclic nucleotide gated channel subunit beta 1

HGNC Previous Symbols

CNCG2; CNCG3L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001297.5

p.A522_E523insC

c.1564_1568ins3

Surrounding Variants

1 paper

NM_001297.5

p.A527V

c.1580C>T

1 paper

NM_001297.5

p.P516S

c.1546C>T

1 paper

NM_001297.5

p.K513delFs

c.1538_1539delCT

11 papers

NM_001297.5

p.P530R

c.1589C>G

2 papers

NM_001297.5

p.R512K

c.1535G>A

2 papers

NM_001297.5

p.V535A

c.1604T>C

1 paper

NM_001297.5

p.A537A

c.1611C>G

1 paper

NM_001297.5

p.W538*

c.1613G>A

1 paper

NM_001297.5

p.W538*

c.1614G>A

1 paper

NM_001297.5

p.S539Y

c.1616C>A

1 paper

NM_001297.5

p.T542S

c.1625C>G

3 papers

NM_001297.5

p.P544L

c.1631C>T