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

2 papers

NM_019098.5

p.D460delFs

c.1379delT

Surrounding Variants

1 paper

NM_019098.5

p.C458fs

c.1372_1373fs

1 paper

NM_019098.5

p.C458delFs

c.1372delA

2 papers

NM_019098.5

p.A457D

c.1370C>A

1 paper

NM_019098.5

p.A464delFs

c.1390_1391delGC

1 paper

NM_019098.5

p.R456H

c.1367G>A

4 papers

NM_019098.5

p.R456delFs

c.1366delG

1 paper

NM_019098.5

p.R456fs

c.1366_1367fs

6 papers

NM_019098.5

p.M466T

c.1397T>C

3 papers

NM_019098.5

p.M466K

c.1397T>A

1 paper

NM_019098.5

p.M466I

c.1398G>T

1 paper

NM_019098.5

p.M466I

c.1398G>C

1 paper

NM_019098.5

p.M466I

c.1398G>A