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.E600D

c.1800G>C

Surrounding Variants

1 paper

NM_001298.3

p.E600D

c.1800G>T

5 papers

NM_001298.3

p.G602E

c.1805G>A

1 paper

NM_001298.3

p.L598L

c.1794G>T

2 papers

NM_001298.3

p.R603W

c.1807C>T

4 papers

NM_001298.3

p.L598R

c.1793T>G

1 paper

NM_001298.3

p.R603Q

c.1808G>A

4 papers

NM_001298.3

p.Q604*

c.1810C>T

2 papers

NM_001298.3

p.Q604delFs

c.1811delA

1 paper

NM_001298.3

p.Q604fs

c.1810_1811fs

1 paper

NM_001298.3

p.A597T

c.1789G>A

2 papers

NM_001298.3

p.K595R

c.1784A>G

1 paper

NM_001298.3

p.E593D

c.1779A>C