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.N1063K

c.3189T>G

Surrounding Variants

1 paper

NM_001297.5

p.N1063K

c.3189T>A

1 paper

NM_001297.5

p.F1055L

c.3165C>G

1 paper

NM_001297.5

p.F1055L

c.3165C>A

1 paper

NM_001297.5

p.F1055L

c.3163T>C

3 papers

NM_001297.5

p.F1051fs

c.3151_3152fs

17 papers

NM_001297.5

p.F1051fs

c.3151_3152fs

21 papers

NM_001297.5

p.G1050delFs

c.3150delC

1 paper

NM_001297.5

p.A1044_G1050insFs

c.3131_3149dup19

2 papers

NM_001297.5

p.A1044_G1050delFs

c.3131_3149del19

1 paper

NM_001297.5

p.R1077W

c.3229C>T

1 paper

NM_001297.5

p.R1077Q

c.3230G>A

4 papers

NM_001297.5

p.A1048fs

c.3142_3143fs