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

1–12 of 168 variants

10 papers

NM_001379270.1

p.G158delFs

c.472delC

10 papers

NM_001379270.1

p.S316F

c.947C>T

7 papers

NM_001379270.1

p.A320V

c.959C>T

6 papers

NM_001379270.1

p.L85delFs

c.253delG

6 papers

NM_001379270.1

p.N89delFs

c.265delT

5 papers

NM_001379270.1

p.L199F

c.597G>C

5 papers

NM_001379270.1

p.W433*

c.1298G>A

4 papers

NM_001379270.1

p.K2E

c.4A>G

4 papers

NM_001379270.1

p.K133delFs

c.398delT

4 papers

NM_001379270.1

p.K136Q

c.406A>C

4 papers

NM_001379270.1

p.R214*

c.640C>T

4 papers

NM_001379270.1

p.T355A

c.1063A>G