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

1–12 of 680 variants

146 papers

NM_019098.5

p.T383delFs

c.1148delG

65 papers

NM_019098.5

p.T383fs

c.1147_1148fs

53 papers

NM_019098.5

p.R403Q

c.1208G>A

34 papers

NM_019098.5

p.T383fs

c.1147_1148fs

30 papers

NM_019098.5

p.E336*

c.1006G>T

28 papers

NM_019098.5

p.P273_Q276delFs

c.819_826del8

22 papers

NM_019098.5

p.K526_G527Splc

c.1578+1G>A

20 papers

NM_019098.5

p.S435F

c.1304C>T

17 papers

NM_019098.5

p.R274fs

c.820_821fs

16 papers

NM_019098.5

p.R478*

c.1432C>T

15 papers

NM_019098.5

p.T296_K299Fs

c.886_896delinsTFs

15 papers

NM_019098.5

p.K330_Y331Splc

c.991-3T>G