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.I271_Q272insA

c.811_815ins3

Surrounding Variants

1 paper

NM_019098.5

p.Q272*

c.814C>T

1 paper

NM_019098.5

p.L269L

c.807A>T

3 papers

NM_019098.5

p.L269P

c.806T>C

3 papers

NM_019098.5

p.P273fs

c.817_818fs

1 paper

NM_019098.5

p.M268insFs

c.802_803ins4

17 papers

NM_019098.5

p.R274fs

c.820_821fs

1 paper

NM_019098.5

p.P273delFs

c.819delG

3 papers

NM_019098.5

p.R274K

c.821G>A

3 papers

NM_019098.5

p.R274S

c.822A>T

3 papers

NM_019098.5

p.R274S

c.822A>C

4 papers

NM_019098.5

p.R274fs

c.820_821fs

1 paper

NM_019098.5

p.Q276*

c.826C>T