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.R347C

c.1039C>T

Surrounding Variants

1 paper

NM_001298.3

p.R347R

c.1041C>T

1 paper

NM_001298.3

p.G346R

c.1036G>A

1 paper

NM_001298.3

p.G346R

c.1036G>C

2 papers

NM_001298.3

p.H345R

c.1034A>G

2 papers

NM_001298.3

p.R350G

c.1048A>G

8 papers

NM_001298.3

p.E344*

c.1030G>T

1 paper

NM_001298.3

p.I353L

c.1057A>C

13 papers

NM_001298.3

p.S341P

c.1021T>C

5 papers

NM_001298.3

p.I353T

c.1058T>C

1 paper

NM_001298.3

p.Y354H

c.1060T>C

3 papers

NM_001298.3

p.Y354C

c.1061A>G

1 paper

NM_001298.3

p.Y354*

c.1062C>A