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

15 papers

NM_001297.5

p.L849fs

c.2545_2546fs

Surrounding Variants

12 papers

NM_001297.5

p.G848_L849insFs

c.2544_2545insG

5 papers

NM_001297.5

p.G848delFs

c.2544delC

1 paper

NM_001297.5

p.L849insFs

c.2545dupC

1 paper

NM_001297.5

p.G848_L849insFs

c.2544_2545insC

1 paper

NM_001297.5

p.G848fs

c.2542_2543fs

1 paper

NM_001297.5

p.L849fs

c.2545_2546fs

1 paper

NM_001297.5

p.G848E

c.2543G>A

1 paper

NM_001297.5

p.G848insFs

c.2542_2543insA

1 paper

NM_001297.5

p.G848fs

c.2542_2543fs

3 papers

NM_001297.5

p.G847E

c.2540G>A

2 papers

NM_001297.5

p.G847R

c.2539G>C

2 papers

NM_001297.5

p.G847R

c.2539G>A