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

2 papers

NM_001298.3

p.W335*

c.1005G>A

Surrounding Variants

2 papers

NM_001298.3

p.W335C

c.1005G>C

2 papers

NM_001298.3

p.W335C

c.1005G>T

2 papers

NM_001298.3

p.W335*

c.1004G>A

9 papers

NM_001298.3

p.V336F

c.1006G>T

14 papers

NM_001298.3

p.S334F

c.1001C>T

1 paper

NM_001298.3

p.Y337fs

c.1009_1010fs

1 paper

NM_001298.3

p.Y337_P338del1

c.1010_1012delACC

1 paper

NM_001298.3

p.Y337C

c.1010A>G

3 papers

NM_001298.3

p.D333fs

c.997_998fs

5 papers

NM_001298.3

p.D333delFs

c.997_998delGA

4 papers

NM_001298.3

p.G331E

c.992G>A

7 papers

NM_001298.3

p.G331R

c.991G>A