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

3 papers

NM_001298.3

p.Q196R

c.587A>G

Surrounding Variants

1 paper

NM_001298.3

p.Q196L

c.587A>T

6 papers

NM_001298.3

p.Q196*

c.586C>T

2 papers

NM_001298.3

p.S197P

c.589T>C

2 papers

NM_001298.3

p.S197delFs

c.591delC

2 papers

NM_001298.3

p.L195P

c.584T>C

3 papers

NM_001298.3

p.E198K

c.592G>A

1 paper

NM_001298.3

p.E198fs

c.592_593fs

7 papers

NM_001298.3

p.E194K

c.580G>A

1 paper

NM_001079878.2

p.Y181C

c.542A>G

1 paper

NM_001298.3

p.D193N

c.577G>A

12 papers

NM_001298.3

p.C191Y

c.572G>A

1 paper

NM_001298.3

p.C191S

c.572G>C