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

3 papers

NM_001298.3

p.I482fs

c.1444_1445fs

Surrounding Variants

2 papers

NM_001298.3

p.I482insFs

c.1444_1445insC

2 papers

NM_001298.3

p.I482fs

c.1444_1445fs

2 papers

NM_001298.3

p.R481H

c.1442G>A

6 papers

NM_001298.3

p.R481insFs

c.1443dupC

1 paper

NM_001298.3

p.R481C

c.1441C>T

1 paper

NM_001298.3

p.K479delins

c.1435_1436delinsGT

5 papers

NM_001298.3

p.D485V

c.1454A>T

2 papers

NM_001298.3

p.C486R

c.1456T>C

7 papers

NM_001298.3

p.C486Y

c.1457G>A

1 paper

NM_001298.3

p.G489_V492del4

c.1465_1475del12

4 papers

NM_001298.3

p.G489V

c.1466G>T

1 paper

NM_001298.3

p.V492L

c.1474G>T