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

53 papers

NM_019098.5

p.R403Q

c.1208G>A

Surrounding Variants

2 papers

NM_019098.5

p.R403*

c.1207C>T

1 paper

NM_019098.5

p.V402D

c.1205T>A

1 paper

NM_019098.5

p.V402F

c.1204G>T

1 paper

NM_019098.5

p.I406fs

c.1216_1217fs

1 paper

NM_019098.5

p.W400C

c.1200G>T

1 paper

NM_019098.5

p.W400C

c.1200G>C

1 paper

NM_019098.5

p.W400*

c.1200G>A

3 papers

NM_019098.5

p.I406T

c.1217T>C

1 paper

NM_019098.5

p.W400*

c.1199G>A

1 paper

NM_019098.5

p.W400R

c.1198T>C

1 paper

NM_019098.5

p.W400R

c.1198T>A

3 papers

NM_019098.5

p.Y398*

c.1194T>G