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.L254L

c.760T>C

Surrounding Variants

3 papers

NM_001298.3

p.D252A

c.755A>C

5 papers

NM_001298.3

p.D252N

c.754G>A

2 papers

NM_001298.3

p.L256L

c.768G>T

3 papers

NM_001298.3

p.P258A

c.772C>G

6 papers

NM_001298.3

p.P258R

c.773C>G

6 papers

NM_001298.3

p.F249S

c.746T>C

3 papers

NM_001298.3

p.Q248R

c.743A>G

1 paper

NM_001298.3

p.T259T

c.777C>A

1 paper

NM_001298.3

p.D260insFs

c.778dupG

2 papers

NM_001298.3

p.Q248*

c.742C>T

24 papers

NM_001298.3

p.D260N

c.778G>A

4 papers

NM_001298.3

p.D260H

c.778G>C