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

Selected Variant

1 paper

NM_001298.3

p.S282insFs

c.844_845ins4

Surrounding Variants

1 paper

NM_001298.3

p.R283R

c.847C>A

70 papers

NM_001298.3

p.R283W

c.847C>T

35 papers

NM_001298.3

p.R283Q

c.848G>A

1 paper

NM_001298.3

p.R283L

c.848G>T

3 papers

NM_001298.3

p.K280*

c.838A>T

2 papers

NM_001298.3

p.L284delFs

c.851delT

1 paper

NM_001298.3

p.L284fs

c.850_851fs

7 papers

NM_001298.3

p.L278P

c.833T>C

29 papers

NM_001298.3

p.R277H

c.830G>A

7 papers

NM_001298.3

p.R277G

c.829C>G

60 papers

NM_001298.3

p.R277C

c.829C>T

12 papers

NM_001298.3

p.N276S

c.827A>G