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

60 papers

NM_001298.3

p.R277C

c.829C>T

Surrounding Variants

7 papers

NM_001298.3

p.R277G

c.829C>G

29 papers

NM_001298.3

p.R277H

c.830G>A

12 papers

NM_001298.3

p.N276S

c.827A>G

7 papers

NM_001298.3

p.L278P

c.833T>C

11 papers

NM_001298.3

p.R274S

c.822G>C

12 papers

NM_001298.3

p.R274S

c.822G>T

5 papers

NM_001298.3

p.R274K

c.821G>A

3 papers

NM_001298.3

p.K280*

c.838A>T

1 paper

NM_001298.3

p.R274fs

c.820_821fs

2 papers

NM_001298.3

p.V273_N276delFs

c.819_826del8

1 paper

NM_001298.3

p.S282insFs

c.844_845ins4

3 papers

NM_001298.3

p.P271T

c.811C>A