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.G358R

c.1072G>A

Surrounding Variants

1 paper

NM_019098.5

p.G358R

c.1072G>C

2 papers

NM_019098.5

p.R355Q

c.1064G>A

10 papers

NM_019098.5

p.R355*

c.1063C>T

3 papers

NM_019098.5

p.V353A

c.1058T>C

3 papers

NM_019098.5

p.I363T

c.1088T>C

1 paper

NM_019098.5

p.I363Fs

c.1088_1089delinsAFs

3 papers

NM_019098.5

p.R352K

c.1055G>A

1 paper

NM_019098.5

p.R352Splc

c.1056-2A>G

4 papers

NM_019098.5

p.R352Splc

c.1056-3C>G

1 paper

NM_019098.5

p.H365Q

c.1095C>G

1 paper

NM_019098.5

p.H365Q

c.1095C>A

1 paper

NM_019098.5

p.N367K

c.1101T>G