Varaico: Literature-Extracted Genetic Variants

CNGA3

395 papers

RefSeq Summary

This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated wit...

Pfam Domains

Ion_transaa 168–411UCSCIon transport protein

cNMP_bindingaa 500–591UCSCCyclic nucleotide-binding domain

CLZaa 598–668UCSCC-terminal leucine zipper domain of cyclic nucleotide-gated channels

Gene Aliases

HGNC Name

cyclic nucleotide gated channel subunit alpha 3

HGNC Previous Symbols

CNCG3; ACHM2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 628 variants

70 papers

NM_001298.3

p.R283W

c.847C>T

60 papers

NM_001298.3

p.R277C

c.829C>T

52 papers

NM_001298.3

p.F547L

c.1641C>A

51 papers

NM_001298.3

p.F547L

c.1639T>C

51 papers

NM_001298.3

p.F547L

c.1641C>G

49 papers

NM_001298.3

p.R436W

c.1306C>T

46 papers

NM_001298.3

p.R427C

c.1279C>T

35 papers

NM_001298.3

p.R283Q

c.848G>A

34 papers

NM_001298.3

p.R223W

c.667C>T

33 papers

NM_001298.3

p.V529M

c.1585G>A

29 papers

NM_001298.3

p.R277H

c.830G>A

29 papers

NM_001298.3

p.G557R

c.1669G>A