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

8 papers

NM_001298.3

p.D211E

c.633T>A

Surrounding Variants

7 papers

NM_001298.3

p.D211E

c.633T>G

1 paper

NM_001298.3

p.D211G

c.632A>G

1 paper

NM_001298.3

p.S209L

c.626C>T

2 papers

NM_001298.3

p.S209P

c.625T>C

3 papers

NM_001298.3

p.Y208*

c.624C>A

3 papers

NM_001298.3

p.Y208*

c.624C>G

1 paper

NM_001298.3

p.D207V

c.620A>T

2 papers

NM_001298.3

p.D217H

c.649G>C

3 papers

NM_001298.3

p.W203*

c.609G>A

5 papers

NM_001298.3

p.W203C

c.609G>C

5 papers

NM_001298.3

p.W203C

c.609G>T

4 papers

NM_001298.3

p.W203*

c.608G>A