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

6 papers

NM_001298.3

p.S570I

c.1709G>T

Surrounding Variants

7 papers

NM_001298.3

p.S570N

c.1709G>A

1 paper

NM_001298.3

p.S570R

c.1708A>C

3 papers

NM_001298.3

p.S570G

c.1708A>G

1 paper

NM_001298.3

p.S570R

c.1710C>A

1 paper

NM_001298.3

p.S570R

c.1710C>G

19 papers

NM_001298.3

p.R569H

c.1706G>A

4 papers

NM_001298.3

p.I571T

c.1712T>C

7 papers

NM_001298.3

p.R569C

c.1705C>T

1 paper

NM_001298.3

p.G572S

c.1714G>A

1 paper

NM_001298.3

p.G572A

c.1715G>C

4 papers

NM_001298.3

p.Y573H

c.1717T>C

7 papers

NM_001298.3

p.Y573C

c.1718A>G