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.Q299_D303Fs

c.896_907delinsTFs

Surrounding Variants

1 paper

NM_001297.5

p.E307K

c.919G>A

1 paper

NM_001297.5

p.G297insFs

c.891dupA

1 paper

NM_001297.5

p.G297V

c.890G>T

1 paper

NM_001297.5

p.P312S

c.934C>T

3 papers

NM_001297.5

p.W313*

c.938G>A

5 papers

NM_001297.5

p.W313*

c.939G>A

1 paper

NM_001297.5

p.I292Splc

c.875-2A>G

1 paper

NM_001297.5

p.I292Splc

c.875-2A>C

1 paper

NM_001297.5

p.A316V

c.947C>T

10 papers

NM_001297.5

p.Q318*

c.952C>T

1 paper

NM_001297.5

p.V320L

c.958G>C

1 paper

NM_001297.5

p.T322I

c.965C>T