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.V514M

c.1540G>A

Surrounding Variants

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

1 paper

NM_019098.5

p.I512Fs

c.1534delinsGTFs

3 papers

NM_019098.5

p.I512V

c.1534A>G

1 paper

NM_019098.5

p.F516F

c.1548C>T

3 papers

NM_019098.5

p.A511T

c.1531G>A

1 paper

NM_019098.5

p.L510F

c.1528C>T

2 papers

NM_019098.5

p.I519T

c.1556T>C

1 paper

NM_019098.5

p.I519I

c.1557C>A

2 papers

NM_019098.5

p.Q507R

c.1520A>G