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.R427H

c.1280G>A

Surrounding Variants

3 papers

NM_001298.3

p.R427L

c.1280G>T

46 papers

NM_001298.3

p.R427C

c.1279C>T

4 papers

NM_001298.3

p.V429A

c.1286T>C

2 papers

NM_001298.3

p.Q425*

c.1273C>T

2 papers

NM_001298.3

p.M424T

c.1271T>C

5 papers

NM_001298.3

p.M424V

c.1270A>G

2 papers

NM_001298.3

p.Y423S

c.1268A>C

5 papers

NM_001298.3

p.D432delFs

c.1294delG

1 paper

NM_001298.3

p.Y423fs

c.1267_1268fs

1 paper

NM_001298.3

p.Q422Q

c.1266G>A

2 papers

NM_001298.3

p.D432fs

c.1294_1295fs

3 papers

NM_001298.3

p.Y423insFs

c.1267dupT