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

21 papers

NM_001297.5

p.R762C

c.2284C>T

Surrounding Variants

3 papers

NM_001297.5

p.R762L

c.2285G>T

5 papers

NM_001297.5

p.R762H

c.2285G>A

10 papers

NM_001297.5

p.R765C

c.2293C>T

2 papers

NM_001297.5

p.R765L

c.2294G>T

2 papers

NM_001297.5

p.R765H

c.2294G>A

2 papers

NM_001297.5

p.C766R

c.2296T>C

1 paper

NM_001297.5

p.N758fs

c.2272_2273fs

1 paper

NM_001297.5

p.V757delFs

c.2271delC

1 paper

NM_001297.5

p.L767*

c.2300T>A

1 paper

NM_001297.5

p.G756C

c.2266G>T

1 paper

NM_001297.5

p.G756S

c.2266G>A

3 papers

NM_001297.5

p.L753*

c.2258T>A