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.P941L

c.2822C>T

Surrounding Variants

1 paper

NM_001297.5

p.P941delins

c.2821_2822delinsTT

1 paper

NM_001297.5

p.L940F

c.2818C>T

1 paper

NM_001297.5

p.E935_Q939delFs

c.2804_2817del14

1 paper

NM_001297.5

p.Q939H

c.2817G>T

2 papers

NM_001297.5

p.E935delFs

c.2805delC

2 papers

NM_001297.5

p.E935fs

c.2803_2804fs

1 paper

NM_001297.5

p.E933D

c.2799G>T

1 paper

NM_001297.5

p.E933D

c.2799G>C

1 paper

NM_001297.5

p.V952E

c.2855T>A

1 paper

NM_001297.5

p.I956fs

c.2866_2867fs

1 paper

NM_001297.5

p.I956_V957insFs

c.2868_2869insTA

1 paper

NM_001297.5

p.I956delFs

c.2867delA