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.R499Q

c.1496G>A

Surrounding Variants

19 papers

NM_001298.3

p.R499*

c.1495C>T

1 paper

NM_001298.3

p.F503_S504insT

c.1507_1511ins3

5 papers

NM_001298.3

p.P505A

c.1513C>G

2 papers

NM_001298.3

p.D507delFs

c.1519delG

1 paper

NM_001298.3

p.V492L

c.1474G>T

1 paper

NM_001298.3

p.D507N

c.1519G>A

1 paper

NM_001298.3

p.D507fs

c.1519_1520fs

4 papers

NM_001298.3

p.D507G

c.1520A>G

1 paper

NM_001298.3

p.Y508H

c.1522T>C

4 papers

NM_001298.3

p.G489V

c.1466G>T

1 paper

NM_001298.3

p.G489_V492del4

c.1465_1475del12

6 papers

NM_001298.3

p.C510S

c.1528T>A