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.T364N

c.1091C>A

Surrounding Variants

5 papers

NM_001298.3

p.L363P

c.1088T>C

2 papers

NM_001298.3

p.T362I

c.1085C>T

5 papers

NM_001298.3

p.G367V

c.1100G>T

1 paper

NM_001298.3

p.G367G

c.1101T>C

1 paper

NM_001298.3

p.E368G

c.1103A>G

1 paper

NM_001298.3

p.T360A

c.1078A>G

13 papers

NM_001298.3

p.T369S

c.1105A>T

13 papers

NM_001298.3

p.T369S

c.1106C>G

2 papers

NM_001298.3

p.S359F

c.1076C>T

13 papers

NM_001298.3

p.W358*

c.1074G>A

10 papers

NM_001298.3

p.W358*

c.1073G>A

1 paper

NM_001298.3

p.W358S

c.1073G>C