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.D615N

c.1843G>A

Surrounding Variants

1 paper

NM_001379270.1

p.P616L

c.1847C>T

1 paper

NM_001379270.1

p.D615_P616del2

c.1843_1847del6

1 paper

NM_001379270.1

p.L604L

c.1810C>T

1 paper

NM_001379270.1

p.M626_E627del2

c.1876_1880del6

1 paper

NM_001379270.1

p.V630A

c.1889T>C

1 paper

NM_001379270.1

p.D631H

c.1891G>C

1 paper

NM_001379270.1

p.D631A

c.1892A>C

2 papers

NM_001379270.1

p.L633P

c.1898T>C

1 paper

NM_001379270.1

p.R636delFs

c.1907delC

3 papers

NM_001379270.1

p.E593K

c.1777G>A

1 paper

NM_001379270.1

p.E592A

c.1775A>C

1 paper

NM_001379270.1

p.P585_D586delFs

c.1755_1758del4