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

52 papers

NM_001298.3

p.F547L

c.1639T>C

NM_001079878.2

p.F529L

c.1585T>C

Surrounding Variants

8 papers

NM_001298.3

p.F547C

c.1640T>G

53 papers

NM_001298.3

p.F547L

c.1641C>A

NM_001079878.2

p.F529L

c.1587C>A

52 papers

NM_001298.3

p.F547L

c.1641C>G

NM_001079878.2

p.F529L

c.1587C>G

1 paper

NM_001298.3

p.F547F

c.1641C>T

18 papers

NM_001298.3

p.G548R

c.1642G>A

17 papers

NM_001298.3

p.G548R

c.1642G>C

2 papers

NM_001298.3

p.E549*

c.1645G>T

1 paper

NM_001298.3

p.G544D

c.1631G>A

2 papers

NM_001298.3

p.S542S

c.1626C>T

1 paper

NM_001298.3

p.S542N

c.1625G>A

2 papers

NM_001298.3

p.L541P

c.1622T>C

5 papers

NM_001298.3

p.D543_S545del0

c.1627_1635del9