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.I519T

c.1556T>C

Surrounding Variants

1 paper

NM_019098.5

p.I519I

c.1557C>A

1 paper

NM_019098.5

p.F516F

c.1548C>T

3 papers

NM_019098.5

p.V522A

c.1565T>C

1 paper

NM_019098.5

p.D523D

c.1569C>T

1 paper

NM_019098.5

p.V522_D523insFs

c.1566_1569dup4

2 papers

NM_019098.5

p.V514M

c.1540G>A

1 paper

NM_019098.5

p.D513delFs

c.1538delT

2 papers

NM_019098.5

p.D513Y

c.1537G>T

2 papers

NM_019098.5

p.D513H

c.1537G>C

2 papers

NM_019098.5

p.D513N

c.1537G>A

5 papers

NM_019098.5

p.F525delFs

c.1574_1575delGA

1 paper

NM_019098.5

p.D523_K526del0

c.1569_1577del9