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.D583N

c.1747G>A

Surrounding Variants

2 papers

NM_001298.3

p.D583delFs

c.1749delT

1 paper

NM_001298.3

p.D582D

c.1746C>T

1 paper

NM_001298.3

p.L584fs

c.1750_1751fs

1 paper

NM_001298.3

p.L584P

c.1751T>C

1 paper

NM_001298.3

p.M585L

c.1753A>C

1 paper

NM_001298.3

p.M585L

c.1753A>T

1 paper

NM_001298.3

p.M585I

c.1755G>T

4 papers

NM_001298.3

p.L579R

c.1736T>G

1 paper

NM_001298.3

p.T589T

c.1767C>T

15 papers

NM_001298.3

p.E590K

c.1768G>A

1 paper

NM_001298.3

p.D575N

c.1723G>A

3 papers

NM_001298.3

p.Y591H

c.1771T>C