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.F380C

c.1139T>G

Surrounding Variants

6 papers

NM_001298.3

p.F380S

c.1139T>C

1 paper

NM_001298.3

p.F380del1

c.1138_1139delTTT

1 paper

NM_001298.3

p.V381M

c.1141G>A

1 paper

NM_001298.3

p.L379_F380del1

c.1137_1139delCTT

4 papers

NM_001298.3

p.V382insFs

c.1146dupC

2 papers

NM_001298.3

p.V383fs

c.1147_1148fs

2 papers

NM_001298.3

p.D384_V387del4

c.1150_1160del12

1 paper

NM_001298.3

p.E377K

c.1129G>A

1 paper

NM_001079878.2

p.E358E

c.1074G>A

8 papers

NM_001298.3

p.E376K

c.1126G>A

1 paper

NM_001298.3

p.E376*

c.1126G>T

5 papers

NM_001298.3

p.E377del1

c.1129_1131delGAG