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.N471N

c.1413C>T

Surrounding Variants

11 papers

NM_001298.3

p.N471S

c.1412A>G

6 papers

NM_001298.3

p.A469T

c.1405G>A

1 paper

NM_001298.3

p.A466A

c.1398T>G

1 paper

NM_001298.3

p.K465_N471del0

c.1395_1412del18

1 paper

NM_001298.3

p.K479delins

c.1435_1436delinsGT

5 papers

NM_001298.3

p.L464R

c.1391T>G

1 paper

NM_001298.3

p.D462E

c.1386C>A

1 paper

NM_001298.3

p.D462E

c.1386C>G

1 paper

NM_001298.3

p.R481C

c.1441C>T

2 papers

NM_001298.3

p.R481H

c.1442G>A

6 papers

NM_001298.3

p.R481insFs

c.1443dupC

2 papers

NM_001298.3

p.I482insFs

c.1444_1445insC