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.L239L

c.715C>T

NM_001079878.2

p.L221L

c.661C>T

Surrounding Variants

1 paper

NM_001298.3

p.R238W

c.712A>T

1 paper

NM_001079878.2

p.Q223*

c.667C>T

1 paper

NM_001298.3

p.H242P

c.725A>C

3 papers

NM_001298.3

p.D235V

c.704A>T

8 papers

NM_001298.3

p.T245M

c.734C>T

1 paper

NM_001298.3

p.M232_Q241delFs

c.694_722del29

7 papers

NM_001298.3

p.T247M

c.740C>T

1 paper

NM_001298.3

p.T247T

c.741G>A

2 papers

NM_001298.3

p.Q248*

c.742C>T

3 papers

NM_001298.3

p.Q248R

c.743A>G

6 papers

NM_001298.3

p.F249S

c.746T>C

18 papers

NM_001298.3

p.E228K

c.682G>A