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.L541P

c.1622T>C

Surrounding Variants

5 papers

NM_001298.3

p.D543_S545del0

c.1627_1635del9

1 paper

NM_001298.3

p.L541I

c.1621C>A

5 papers

NM_001298.3

p.L541F

c.1621C>T

1 paper

NM_001298.3

p.S542N

c.1625G>A

2 papers

NM_001298.3

p.S542S

c.1626C>T

20 papers

NM_001298.3

p.V540I

c.1618G>A

1 paper

NM_001298.3

p.V540F

c.1618G>T

4 papers

NM_001298.3

p.V539M

c.1615G>A

1 paper

NM_001298.3

p.G544D

c.1631G>A

1 paper

NM_001298.3

p.Q537Q

c.1611G>A

1 paper

NM_001298.3

p.Q537K

c.1609C>A

6 papers

NM_001298.3

p.Q537*

c.1609C>T