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.Q414*

c.1240C>T

Surrounding Variants

3 papers

NM_001298.3

p.A415P

c.1243G>C

2 papers

NM_001298.3

p.E412fs

c.1234_1235fs

3 papers

NM_001298.3

p.E412delFs

c.1235_1236delAG

2 papers

NM_001298.3

p.R410G

c.1228C>G

21 papers

NM_001298.3

p.R410W

c.1228C>T

1 paper

NM_001298.3

p.S409L

c.1226C>T

2 papers

NM_001298.3

p.D418E

c.1254T>A

2 papers

NM_001298.3

p.D418E

c.1254T>G

4 papers

NM_001298.3

p.S419P

c.1255T>C

3 papers

NM_001298.3

p.S419F

c.1256C>T

4 papers

NM_001298.3

p.K421delFs

c.1262delA

4 papers

NM_001298.3

p.K421fs

c.1261_1262fs