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.L546delFs

c.1636delG

Surrounding Variants

1 paper

NM_001379270.1

p.N547D

c.1639A>G

1 paper

NM_001379270.1

p.I545F

c.1633A>T

1 paper

NM_001379270.1

p.G541S

c.1621G>A

1 paper

NM_001379270.1

p.R556*

c.1666C>T

1 paper

NM_001379270.1

p.A559P

c.1675G>C

1 paper

NM_001379270.1

p.N560K

c.1680T>A

1 paper

NM_001379270.1

p.V528_T529delFs

c.1584_1587del4

1 paper

NM_001379270.1

p.S567delFs

c.1701delT

1 paper

NM_001379270.1

p.L569L

c.1705C>T

1 paper

NM_001379270.1

p.D576Y

c.1726G>T

1 paper

NM_001379270.1

p.I515delFs

c.1544delA

1 paper

NM_001379270.1

p.T582fs

c.1744_1745fs