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

33 papers

NM_001298.3

p.V529M

c.1585G>A

Surrounding Variants

1 paper

NM_001298.3

p.V529L

c.1585G>C

1 paper

NM_001298.3

p.V529L

c.1585G>T

1 paper

NM_001298.3

p.A528_Q537Fs

c.1583_1609delinsGFs

2 papers

NM_001298.3

p.V530M

c.1588G>A

11 papers

NM_001298.3

p.L527R

c.1580T>G

8 papers

NM_001298.3

p.L527M

c.1579C>A

1 paper

NM_001298.3

p.D532G

c.1595A>G

9 papers

NM_001298.3

p.G525D

c.1574G>A

5 papers

NM_001298.3

p.G525S

c.1573G>A

1 paper

NM_001298.3

p.D533N

c.1597G>A

7 papers

NM_001298.3

p.D533H

c.1597G>C

1 paper

NM_001298.3

p.G534R

c.1600G>A