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.Q245_I250delFs

c.733_749del17

Surrounding Variants

2 papers

NM_019098.5

p.Y252S

c.755A>C

1 paper

NM_019098.5

p.A247_Y252delFs

c.739_754del16

2 papers

NM_019098.5

p.Y252*

c.756C>G

1 paper

NM_019098.5

p.D248E

c.744C>G

1 paper

NM_019098.5

p.Y252*

c.756C>A

1 paper

NM_019098.5

p.D248E

c.744C>A

2 papers

NM_019098.5

p.D248G

c.743A>G

2 papers

NM_019098.5

p.W253*

c.758G>A

2 papers

NM_019098.5

p.W253*

c.759G>A

2 papers

NM_019098.5

p.A247V

c.740C>T

1 paper

NM_019098.5

p.A247T

c.739G>A

1 paper

NM_019098.5

p.A247fs

c.739_740fs