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.K265R

c.794A>G

Surrounding Variants

6 papers

NM_001298.3

p.V266M

c.796G>A

2 papers

NM_001298.3

p.L264I

c.790T>A

7 papers

NM_001298.3

p.G267D

c.800G>A

1 paper

NM_001298.3

p.G267V

c.800G>T

1 paper

NM_001298.3

p.T268insFs

c.802_803ins4

6 papers

NM_001298.3

p.Y263D

c.787T>G

1 paper

NM_001298.3

p.T268insFs

c.803_804ins4

1 paper

NM_001298.3

p.A262T

c.784G>A

5 papers

NM_001298.3

p.A262P

c.784G>C

1 paper

NM_001298.3

p.Y270N

c.808T>A

24 papers

NM_001298.3

p.D260N

c.778G>A

4 papers

NM_001298.3

p.D260H

c.778G>C