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

7 papers

NM_001298.3

p.M406T

c.1217T>C

Surrounding Variants

1 paper

NM_001298.3

p.M406V

c.1216A>G

1 paper

NM_001298.3

p.S404P

c.1210T>C

1 paper

NM_001298.3

p.S409L

c.1226C>T

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.I403delFs

c.1207delA

3 papers

NM_001298.3

p.E412delFs

c.1235_1236delAG

7 papers

NM_001298.3

p.S401P

c.1201T>C

2 papers

NM_001298.3

p.E412fs

c.1234_1235fs

1 paper

NM_001298.3

p.Q414*

c.1240C>T

1 paper

NM_001298.3

p.N398S

c.1193A>G

3 papers

NM_001298.3

p.A415P

c.1243G>C