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

3 papers

NM_001379270.1

p.K447insFs

c.1339dupA

Surrounding Variants

1 paper

NM_001379270.1

p.E446V

c.1337A>T

1 paper

NM_001379270.1

p.T443insFs

c.1327dupA

1 paper

NM_001379270.1

p.L453P

c.1358T>C

1 paper

NM_001379270.1

p.K442R

c.1325A>G

1 paper

NM_001379270.1

p.D455_K456insA

c.1363_1367ins3

1 paper

NM_001379270.1

p.A459V

c.1376C>T

1 paper

NM_001379270.1

p.W433*

c.1299G>A

5 papers

NM_001379270.1

p.W433*

c.1298G>A

1 paper

NM_001379270.1

p.K472E

c.1414A>G

1 paper

NM_001379270.1

p.N421fs

c.1261_1262fs

2 papers

NM_001379270.1

p.A477delFs

c.1429delC

1 paper

NM_001379270.1

p.Q415P

c.1244A>C