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

52 papers

NM_001297.5

p.N986I

c.2957A>T

NM_001286130.2

p.N980I

c.2939A>T

Surrounding Variants

1 paper

NM_001297.5

p.L984L

c.2950C>T

1 paper

NM_001297.5

p.Y983*

c.2949C>G

1 paper

NM_001297.5

p.Y983*

c.2949C>A

1 paper

NM_001297.5

p.V989E

c.2966T>A

1 paper

NM_001297.5

p.R979H

c.2936G>A

1 paper

NM_001297.5

p.K992_G993Splc

c.2976+8G>C

7 papers

NM_001297.5

p.M974R

c.2921T>G

2 papers

NM_001297.5

p.R968Q

c.2903G>A

1 paper

NM_001297.5

p.R968W

c.2902C>T

1 paper

NM_001297.5

p.G965C

c.2893G>T

2 papers

NM_001297.5

p.G965S

c.2893G>A

5 papers

NM_001297.5

p.Q964_G965Splc

c.2893-7G>A