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.G557E

c.1670G>A

Surrounding Variants

29 papers

NM_001298.3

p.G557R

c.1669G>A

28 papers

NM_001298.3

p.G557R

c.1669G>C

1 paper

NM_001298.3

p.S560*

c.1679C>A

3 papers

NM_001298.3

p.S560L

c.1679C>T

1 paper

NM_001079878.2

p.G543_R545del0

c.1627_1635del9

1 paper

NM_001298.3

p.G561insFs

c.1682_1683ins5

5 papers

NM_001298.3

p.G561E

c.1682G>A

1 paper

NM_001298.3

p.G561insFs

c.1682_1683insA

1 paper

NM_001298.3

p.G561insFs

c.1682_1683ins5

3 papers

NM_001298.3

p.L553Q

c.1658T>A

2 papers

NM_001298.3

p.N562K

c.1686C>A

2 papers

NM_001298.3

p.N562K

c.1686C>G