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

12 papers

NM_001298.3

p.G397V

c.1190G>T

Surrounding Variants

1 paper

NM_001298.3

p.G397A

c.1190G>C

1 paper

NM_001298.3

p.N398S

c.1193A>G

1 paper

NM_001298.3

p.T394I

c.1181C>T

7 papers

NM_001298.3

p.S401P

c.1201T>C

1 paper

NM_001298.3

p.I403delFs

c.1207delA

1 paper

NM_001298.3

p.S404P

c.1210T>C

1 paper

NM_001298.3

p.L390R

c.1169T>G

1 paper

NM_001298.3

p.V389I

c.1165G>A

1 paper

NM_001298.3

p.M406V

c.1216A>G

3 papers

NM_001298.3

p.G388D

c.1163G>A

3 papers

NM_001298.3

p.G388V

c.1163G>T

7 papers

NM_001298.3

p.M406T

c.1217T>C