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.H315Q

c.945C>A

Surrounding Variants

3 papers

NM_001298.3

p.H315Q

c.945C>G

8 papers

NM_001298.3

p.W316*

c.947G>A

8 papers

NM_001298.3

p.W316*

c.948G>A

1 paper

NM_001298.3

p.I314_H315delFs

c.942_943delCC

7 papers

NM_001298.3

p.A318T

c.952G>A

14 papers

NM_001298.3

p.C319R

c.955T>C

1 paper

NM_001298.3

p.C319_Y321delins

c.955_963delinsACCAAT

19 papers

NM_001298.3

p.I314del1

c.940_941delATC

1 paper

NM_001298.3

p.Y321C

c.962A>G

5 papers

NM_001298.3

p.F322S

c.965T>C

13 papers

NM_001298.3

p.A323P

c.967G>C

5 papers

NM_001298.3

p.A323D

c.968C>A