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.I263delFs

c.789delG

Surrounding Variants

1 paper

NM_019098.5

p.Y264_L265delFs

c.791_794del4

2 papers

NM_019098.5

p.D261G

c.782A>G

1 paper

NM_019098.5

p.C260insFs

c.778dupT

1 paper

NM_019098.5

p.M268insFs

c.802_803ins4

3 papers

NM_019098.5

p.L269P

c.806T>C

1 paper

NM_019098.5

p.L269L

c.807A>T

1 paper

NM_019098.5

p.I271_Q272insA

c.811_815ins3

3 papers

NM_019098.5

p.A256A

c.768G>T

1 paper

NM_019098.5

p.A256V

c.767C>T

1 paper

NM_019098.5

p.Q272*

c.814C>T

3 papers

NM_019098.5

p.P273fs

c.817_818fs

17 papers

NM_019098.5

p.R274fs

c.820_821fs