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.A408_R409delFs

c.1222_1226del5

Surrounding Variants

1 paper

NM_001379270.1

p.F406_Q407delins

c.1218_1220delinsTAT

1 paper

NM_001379270.1

p.Q415P

c.1244A>C

1 paper

NM_001379270.1

p.R403K

c.1208G>A

1 paper

NM_001379270.1

p.N421fs

c.1261_1262fs

1 paper

NM_001379270.1

p.S397C

c.1190C>G

1 paper

NM_001379270.1

p.L383_I392del10

c.1147_1175del30

5 papers

NM_001379270.1

p.W433*

c.1298G>A

1 paper

NM_001379270.1

p.W433*

c.1299G>A

1 paper

NM_001379270.1

p.F385L

c.1153T>C

1 paper

NM_001379270.1

p.I384T

c.1151T>C

1 paper

NM_001379270.1

p.D377N

c.1129G>A

1 paper

NM_001379270.1

p.K442R

c.1325A>G