Varaico: Literature-Extracted Genetic Variants

CNGB3

437 papers

RefSeq Summary

This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetram...

Pfam Domains

Ion_transaa 218–453UCSCIon transport protein

cNMP_bindingaa 542–631UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

cyclic nucleotide gated channel subunit beta 3

HGNC Previous Symbols

ACHM3; ACHM1; RMCH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_019098.5

p.A228T

c.682G>A

Surrounding Variants

2 papers

NM_019098.5

p.A228insFs

c.682_683insG

1 paper

NM_019098.5

p.L227P

c.680T>C

1 paper

NM_019098.5

p.Y229Y

c.687T>C

1 paper

NM_019098.5

p.T226N

c.677C>A

1 paper

NM_019098.5

p.V225I

c.673G>A

1 paper

NM_019098.5

p.W231*

c.692G>A

1 paper

NM_019098.5

p.C233insFs

c.697dupT

2 papers

NM_019098.5

p.C234Y

c.701G>A

1 paper

NM_019098.5

p.N232_C234ins1

c.696_701dup6

6 papers

NM_019098.5

p.C234W

c.702T>G

3 papers

NM_019098.5

p.C234*

c.702T>A

1 paper

NM_019098.5

p.C234delins

c.701_702delinsAG