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

8 papers

NM_019098.5

p.E419*

c.1255G>T

Surrounding Variants

1 paper

NM_019098.5

p.F418L

c.1254T>G

1 paper

NM_019098.5

p.F418S

c.1253T>C

1 paper

NM_019098.5

p.F418Y

c.1253T>A

1 paper

NM_019098.5

p.I420fs

c.1258_1259fs

1 paper

NM_019098.5

p.L417delFs

c.1250delA

2 papers

NM_019098.5

p.Q415*

c.1243C>T

2 papers

NM_019098.5

p.V421delFs

c.1262delA

1 paper

NM_019098.5

p.Q423P

c.1268A>C

2 papers

NM_019098.5

p.Q423insFs

c.1267dupC

1 paper

NM_019098.5

p.L424P

c.1271T>C

2 papers

NM_019098.5

p.P412delFs

c.1235_1236delTG

1 paper

NM_019098.5

p.N426I

c.1277A>T