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

1 paper

NM_019098.5

p.T296S

c.886A>T

Surrounding Variants

6 papers

NM_019098.5

p.T296fs

c.886_887fs

1 paper

NM_019098.5

p.R295delFs

c.885delC

1 paper

NM_019098.5

p.T296I

c.887C>T

1 paper

NM_019098.5

p.T296S

c.887C>G

1 paper

NM_019098.5

p.T296insFs

c.886dupA

2 papers

NM_019098.5

p.T296fs

c.886_887fs

1 paper

NM_019098.5

p.Y294*

c.882C>G

1 paper

NM_019098.5

p.Y294insFs

c.880_881ins4

10 papers

NM_019098.5

p.T298P

c.892A>C

1 paper

NM_019098.5

p.T298I

c.893C>T

1 paper

NM_019098.5

p.H293R

c.878A>G

1 paper

NM_019098.5

p.H293D

c.877C>G