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.F330S

c.989T>C

Surrounding Variants

7 papers

NM_001298.3

p.G331R

c.991G>A

7 papers

NM_001298.3

p.G331R

c.991G>C

4 papers

NM_001298.3

p.G331E

c.992G>A

13 papers

NM_001298.3

p.G329C

c.985G>T

5 papers

NM_001298.3

p.D333delFs

c.997_998delGA

1 paper

NM_001298.3

p.I328N

c.983T>A

3 papers

NM_001298.3

p.I328T

c.983T>C

3 papers

NM_001298.3

p.D333fs

c.997_998fs

14 papers

NM_001298.3

p.S334F

c.1001C>T

2 papers

NM_001298.3

p.W335*

c.1004G>A

2 papers

NM_001298.3

p.W335*

c.1005G>A

2 papers

NM_001298.3

p.W335C

c.1005G>C