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

1–12 of 602 variants

51 papers

NM_001297.5

p.N986I

c.2957A>T

21 papers

NM_001297.5

p.R762C

c.2284C>T

21 papers

NM_001297.5

p.G1050delFs

c.3150delC

17 papers

NM_001297.5

p.F1051fs

c.3151_3152fs

16 papers

NM_001297.5

p.G138Splc

c.413-1G>A

15 papers

NM_001297.5

p.L849fs

c.2545_2546fs

13 papers

NM_001297.5

p.G993V

c.2978G>T

12 papers

NM_001297.5

p.G848_L849insFs

c.2544_2545insG

11 papers

NM_001297.5

p.P530R

c.1589C>G

11 papers

NM_001297.5

p.C632*

c.1896C>A

11 papers

NM_001297.5

p.Y787*

c.2361C>A

10 papers

NM_001297.5

p.Q318*

c.952C>T