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.E40K

c.118G>A

Surrounding Variants

1 paper

NM_001379270.1

p.T47T

c.141A>T

1 paper

NM_001379270.1

p.S48insFs

c.142_143ins44

1 paper

NM_001379270.1

p.E49delFs

c.145delC

2 papers

NM_001379270.1

p.Y64delFs

c.191delT

1 paper

NM_001379270.1

p.P72L

c.215C>T

1 paper

NM_001379270.1

p.S73P

c.217T>C

1 paper

NM_001379270.1

p.C35insFs

c.103dupT

1 paper

NM_001379270.1

p.R28Q

c.83G>A

3 papers

NM_001379270.1

p.R28*

c.82C>T

1 paper

NM_001379270.1

p.I19insFs

c.57dupT

1 paper

NM_001379270.1

p.V18delFs

c.54delC

1 paper

NM_001379270.1

p.Q9Q

c.27G>A