Varaico: Literature-Extracted Genetic Variants

CNGA1

210 papers

RefSeq Summary

The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of ...

Pfam Domains

Ion_transaa 161–404UCSCIon transport protein

cNMP_bindingaa 493–584UCSCCyclic nucleotide-binding domain

CLZaa 591–661UCSCC-terminal leucine zipper domain of cyclic nucleotide-gated channels

Gene Aliases

HGNC Name

cyclic nucleotide gated channel subunit alpha 1

HGNC Previous Symbols

CNCG1; CNCG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001379270.1

p.Q282E

c.844C>G

Surrounding Variants

1 paper

NM_001379270.1

p.F278delFs

c.833_834delAA

1 paper

NM_001379270.1

p.R287K

c.860G>A

1 paper

NM_001379270.1

p.L272insFs

c.816dupA

1 paper

NM_001379270.1

p.R267I

c.800G>T

1 paper

NM_001379270.1

p.R267*

c.799A>T

2 papers

NM_001379270.1

p.Y263D

c.787T>G

1 paper

NM_001379270.1

p.I303F

c.907A>T

1 paper

NM_001379270.1

p.I305I

c.915C>T

1 paper

NM_001379270.1

p.L254L

c.760T>C

1 paper

NM_001379270.1

p.A311A

c.933A>G

1 paper

NM_001379270.1

p.S316_I317insG

c.946_950ins3

10 papers

NM_001379270.1

p.S316F

c.947C>T