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

4 papers

NM_001379270.1

p.R510*

c.1528C>T

Surrounding Variants

1 paper

NM_001379270.1

p.R510Q

c.1529G>A

3 papers

NM_001379270.1

p.G509R

c.1525G>C

4 papers

NM_001379270.1

p.G509R

c.1525G>A

1 paper

NM_001379270.1

p.D507G

c.1520A>G

1 paper

NM_001379270.1

p.I515delFs

c.1544delA

1 paper

NM_001379270.1

p.K504R

c.1511A>G

2 papers

NM_001379270.1

p.P493S

c.1477C>T

1 paper

NM_001379270.1

p.V528_T529delFs

c.1584_1587del4

1 paper

NM_001379270.1

p.L484_V488delFs

c.1450_1462del13

1 paper

NM_001379270.1

p.L483R

c.1448T>G

1 paper

NM_001379270.1

p.G541S

c.1621G>A

2 papers

NM_001379270.1

p.A477delFs

c.1429delC