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

11 papers

NM_001297.5

p.C632*

c.1896C>A

Surrounding Variants

1 paper

NM_001297.5

p.F634V

c.1900T>G

1 paper

NM_001297.5

p.K635K

c.1905A>G

1 paper

NM_001297.5

p.H636R

c.1907A>G

7 papers

NM_001297.5

p.W639*

c.1916G>A

7 papers

NM_001297.5

p.W639*

c.1917G>A

1 paper

NM_001297.5

p.E623G

c.1868A>G

1 paper

NM_001297.5

p.E623K

c.1867G>A

1 paper

NM_001297.5

p.Q646*

c.1936C>T

1 paper

NM_001297.5

p.E619K

c.1855G>A

1 paper

NM_001297.5

p.S647R

c.1939A>C

1 paper

NM_001297.5

p.S647N

c.1940G>A

1 paper

NM_001297.5

p.S647delFs

c.1939delT