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

8 papers

NM_001298.3

p.M519I

c.1557G>A

Surrounding Variants

6 papers

NM_001298.3

p.M519I

c.1557G>C

6 papers

NM_001298.3

p.M519I

c.1557G>T

7 papers

NM_001298.3

p.M519T

c.1556T>C

9 papers

NM_001298.3

p.I522T

c.1565T>C

1 paper

NM_001298.3

p.N523_K526del0

c.1569_1577del9

5 papers

NM_001298.3

p.G516E

c.1547G>A

3 papers

NM_001298.3

p.N523N

c.1569C>T

1 paper

NM_001298.3

p.I515S

c.1544T>G

5 papers

NM_001298.3

p.D514V

c.1541A>T

5 papers

NM_001298.3

p.G525S

c.1573G>A

9 papers

NM_001298.3

p.G525D

c.1574G>A

6 papers

NM_001298.3

p.D514N

c.1540G>A