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.R456fs

c.1366_1367fs

Surrounding Variants

1 paper

NM_019098.5

p.R456H

c.1367G>A

4 papers

NM_019098.5

p.R456delFs

c.1366delG

2 papers

NM_019098.5

p.A457D

c.1370C>A

1 paper

NM_019098.5

p.C458delFs

c.1372delA

1 paper

NM_019098.5

p.C458fs

c.1372_1373fs

1 paper

NM_019098.5

p.Q452_N453delFs

c.1356_1357delTC

1 paper

NM_019098.5

p.N453Y

c.1357A>T

1 paper

NM_019098.5

p.Q452Q

c.1356G>A

2 papers

NM_019098.5

p.N451insFs

c.1351dupA

2 papers

NM_019098.5

p.D460delFs

c.1379delT

1 paper

NM_019098.5

p.A450_N451insFs

c.1350_1351insG

1 paper

NM_019098.5

p.T449T

c.1347A>T