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.A566_N567insT

c.1696_1700ins3

Surrounding Variants

2 papers

NM_001298.3

p.T565T

c.1695G>A

20 papers

NM_001298.3

p.T565M

c.1694C>T

22 papers

NM_001298.3

p.R563H

c.1688G>A

18 papers

NM_001298.3

p.R563C

c.1687C>T

7 papers

NM_001298.3

p.R569C

c.1705C>T

2 papers

NM_001298.3

p.N562K

c.1686C>A

2 papers

NM_001298.3

p.N562K

c.1686C>G

19 papers

NM_001298.3

p.R569H

c.1706G>A

1 paper

NM_001298.3

p.S570R

c.1708A>C

3 papers

NM_001298.3

p.S570G

c.1708A>G

7 papers

NM_001298.3

p.S570N

c.1709G>A

6 papers

NM_001298.3

p.S570I

c.1709G>T