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

1 paper

NM_001297.5

p.S820T

c.2458T>A

Surrounding Variants

1 paper

NM_001297.5

p.G819S

c.2455G>A

1 paper

NM_001297.5

p.T821P

c.2461A>C

1 paper

NM_001297.5

p.W823R

c.2467T>C

1 paper

NM_001297.5

p.W823R

c.2467T>A

1 paper

NM_001297.5

p.Y825*

c.2475C>G

1 paper

NM_001297.5

p.Y825*

c.2475C>A

1 paper

NM_001297.5

p.D826N

c.2476G>A

1 paper

NM_001297.5

p.D826insFs

c.2476_2477insGA

2 papers

NM_001297.5

p.S813L

c.2438C>T

1 paper

NM_001297.5

p.G827G

c.2481C>T

1 paper

NM_001297.5

p.D826_G827insFs

c.2477_2480dup4

1 paper

NM_001297.5

p.V828fs

c.2482_2483fs