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.Y591*

c.1773C>A

Surrounding Variants

1 paper

NM_001298.3

p.Y591*

c.1773C>G

1 paper

NM_001298.3

p.Y591_P592delFs

c.1773_1776del4

1 paper

NM_001298.3

p.P592A

c.1774C>G

NM_001079878.2

p.P574A

c.1720C>G

4 papers

NM_001298.3

p.P592L

c.1775C>T

3 papers

NM_001298.3

p.Y591H

c.1771T>C

8 papers

NM_001298.3

p.E593K

c.1777G>A

15 papers

NM_001298.3

p.E590K

c.1768G>A

1 paper

NM_001298.3

p.E593D

c.1779A>C

1 paper

NM_001298.3

p.E593D

c.1779A>T

1 paper

NM_001298.3

p.T589T

c.1767C>T

2 papers

NM_001298.3

p.K595R

c.1784A>G

1 paper

NM_001298.3

p.A597T

c.1789G>A