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

2 papers

NM_001298.3

p.L284delFs

c.851delT

Surrounding Variants

1 paper

NM_001298.3

p.L284fs

c.850_851fs

35 papers

NM_001298.3

p.R283Q

c.848G>A

1 paper

NM_001298.3

p.R283L

c.848G>T

1 paper

NM_001298.3

p.R283R

c.847C>A

70 papers

NM_001298.3

p.R283W

c.847C>T

1 paper

NM_001298.3

p.S282insFs

c.844_845ins4

3 papers

NM_001298.3

p.K280*

c.838A>T

7 papers

NM_001298.3

p.L278P

c.833T>C

4 papers

NM_001298.3

p.R290H

c.869G>A

6 papers

NM_001298.3

p.T291delFs

c.872_873delCA

29 papers

NM_001298.3

p.R277H

c.830G>A

4 papers

NM_001298.3

p.T291fs

c.871_872fs