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.V451fs

c.1351_1352fs

Surrounding Variants

3 papers

NM_001298.3

p.V451fs

c.1351_1352fs

1 paper

NM_001298.3

p.V451G

c.1352T>G

6 papers

NM_001298.3

p.V451insFs

c.1351dupG

1 paper

NM_001298.3

p.T450M

c.1349C>T

1 paper

NM_001298.3

p.K449K

c.1347G>A

6 papers

NM_001298.3

p.K448R

c.1343A>G

4 papers

NM_001298.3

p.K454*

c.1360A>T

3 papers

NM_001298.3

p.V456delFs

c.1366delG

1 paper

NM_001298.3

p.V456fs

c.1366_1367fs

2 papers

NM_001298.3

p.L460delFs

c.1379delT

1 paper

NM_001298.3

p.L460fs

c.1378_1379fs

1 paper

NM_001298.3

p.L460P

c.1379T>C