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.D151H

c.451G>C

Surrounding Variants

1 paper

NM_001297.5

p.D151G

c.452A>G

1 paper

NM_001297.5

p.D151E

c.453C>G

1 paper

NM_001297.5

p.D151E

c.453C>A

1 paper

NM_001297.5

p.L147_Q150ins1

c.440_448dup9

1 paper

NM_001297.5

p.T152N

c.455C>A

1 paper

NM_001297.5

p.E148fs

c.442_443fs

1 paper

NM_001297.5

p.L147delFs

c.439delG

1 paper

NM_001297.5

p.R153Splc

c.458+7C>T

1 paper

NM_001297.5

p.A146V

c.437C>T

1 paper

NM_001297.5

p.R153Splc

c.458+8C>T

1 paper

NM_001297.5

p.E142insFs

c.426dupA

1 paper

NM_001297.5

p.P143T

c.427C>A