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.V179D

c.536T>A

Surrounding Variants

1 paper

NM_001379270.1

p.I180delFs

c.540delA

1 paper

NM_001379270.1

p.N175delFs

c.524delT

1 paper

NM_001379270.1

p.I168F

c.502A>T

10 papers

NM_001379270.1

p.G158delFs

c.472delC

1 paper

NM_001379270.1

p.P156L

c.467C>T

1 paper

NM_001379270.1

p.V152insFs

c.455_456insA

2 papers

NM_001379270.1

p.K143*

c.427A>T

1 paper

NM_001379270.1

p.E138A

c.413A>C

2 papers

NM_001379270.1

p.E137A

c.410A>C

4 papers

NM_001379270.1

p.K136Q

c.406A>C

2 papers

NM_001379270.1

p.K135T

c.404A>C

2 papers

NM_001379270.1

p.K135Q

c.403A>C