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.T536S

c.1606A>T

Surrounding Variants

1 paper

NM_001298.3

p.T536S

c.1607C>G

1 paper

NM_001298.3

p.V535D

c.1604T>A

1 paper

NM_001298.3

p.V535A

c.1604T>C

1 paper

NM_001298.3

p.Q537K

c.1609C>A

6 papers

NM_001298.3

p.Q537*

c.1609C>T

1 paper

NM_001298.3

p.Q537Q

c.1611G>A

1 paper

NM_001298.3

p.G534R

c.1600G>A

1 paper

NM_001298.3

p.G534R

c.1600G>C

4 papers

NM_001298.3

p.V539M

c.1615G>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.D532G

c.1595A>G