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

3 papers

NM_019098.5

p.V278A

c.833T>C

Surrounding Variants

3 papers

NM_019098.5

p.Q276R

c.827A>G

28 papers

NM_019098.5

p.P273_Q276delFs

c.819_826del8

1 paper

NM_019098.5

p.Q276*

c.826C>T

1 paper

NM_019098.5

p.G281G

c.843A>G

1 paper

NM_019098.5

p.D282Y

c.844G>T

1 paper

NM_019098.5

p.D282insFs

c.844_845ins4

3 papers

NM_019098.5

p.R274S

c.822A>T

3 papers

NM_019098.5

p.R274S

c.822A>C

4 papers

NM_019098.5

p.R274fs

c.820_821fs

3 papers

NM_019098.5

p.R274K

c.821G>A

17 papers

NM_019098.5

p.R274fs

c.820_821fs

1 paper

NM_019098.5

p.P273delFs

c.819delG