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

5 papers

NM_001298.3

p.E377del1

c.1129_1131delGAG

Surrounding Variants

3 papers

NM_001298.3

p.D375G

c.1124A>G

8 papers

NM_001298.3

p.E376K

c.1126G>A

1 paper

NM_001298.3

p.E376*

c.1126G>T

1 paper

NM_001079878.2

p.E358E

c.1074G>A

1 paper

NM_001298.3

p.E377K

c.1129G>A

4 papers

NM_001298.3

p.V373M

c.1117G>A

3 papers

NM_001298.3

p.V373fs

c.1117_1118fs

1 paper

NM_001298.3

p.P372P

c.1116C>T

3 papers

NM_001298.3

p.P372L

c.1115C>T

1 paper

NM_001298.3

p.L379_F380del1

c.1137_1139delCTT

4 papers

NM_001298.3

p.P372A

c.1114C>G

21 papers

NM_001298.3

p.P372S

c.1114C>T

NM_001079878.2

p.P354S

c.1060C>T