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.H340Y

c.1018C>T

Surrounding Variants

1 paper

NM_019098.5

p.L341P

c.1022T>C

1 paper

NM_019098.5

p.F337_N338del1

c.1010_1012delTAA

1 paper

NM_019098.5

p.E342A

c.1025A>C

30 papers

NM_019098.5

p.E336*

c.1006G>T

1 paper

NM_019098.5

p.F335insFs

c.1005dupT

2 papers

NM_019098.5

p.S333delFs

c.997_998delGA

1 paper

NM_019098.5

p.K347Q

c.1039A>C

1 paper

NM_019098.5

p.Y331fs

c.991_992fs

1 paper

NM_019098.5

p.K330_Y331Splc

c.991-2A>C

15 papers

NM_019098.5

p.K330_Y331Splc

c.991-3T>G

1 paper

NM_019098.5

p.I350V

c.1048A>G

1 paper

NM_019098.5

p.Y351C

c.1052A>G