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

2 papers

NM_001297.5

p.G1015_S1017delFs

c.3044_3050del7

Surrounding Variants

1 paper

NM_001297.5

p.G1015fs

c.3043_3044fs

1 paper

NM_001297.5

p.V1027M

c.3079G>A

1 paper

NM_001297.5

p.V1007L

c.3019G>T

1 paper

NM_001297.5

p.V1007L

c.3019G>C

1 paper

NM_001297.5

p.G1005V

c.3014G>T

1 paper

NM_001297.5

p.I1031delFs

c.3092delA

1 paper

NM_001297.5

p.E998K

c.2992G>A

1 paper

NM_001297.5

p.R997L

c.2990G>T

2 papers

NM_001297.5

p.E994*

c.2980G>T

1 paper

NM_001297.5

p.E994K

c.2980G>A

13 papers

NM_001297.5

p.G993V

c.2978G>T

1 paper

NM_001297.5

p.G993E

c.2978G>A