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.Y769Y

c.2307C>T

Surrounding Variants

1 paper

NM_001297.5

p.Y769fs

c.2305_2306fs

1 paper

NM_001297.5

p.K768_Y769Splc

c.2305-2A>G

1 paper

NM_001297.5

p.K768_Y769Splc

c.2305-7C>T

2 papers

NM_001297.5

p.E774K

c.2320G>A

3 papers

NM_001297.5

p.K768_Y769Splc

c.2305-34G>A

1 paper

NM_001297.5

p.S781S

c.2343C>A

2 papers

NM_001297.5

p.K785*

c.2353A>T

1 paper

NM_001297.5

p.Y787C

c.2360A>G

9 papers

NM_001297.5

p.Y787*

c.2361C>G

11 papers

NM_001297.5

p.Y787*

c.2361C>A

1 paper

NM_001297.5

p.V791V

c.2373C>A

1 paper

NM_001297.5

p.R793G

c.2377A>G