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.R214*

c.640C>T

Surrounding Variants

1 paper

NM_001379270.1

p.I209delFs

c.626_627delGA

1 paper

NM_001379270.1

p.I209fs

c.625_626fs

1 paper

NM_001379270.1

p.I205_V206delFs

c.615_616delCT

5 papers

NM_001379270.1

p.L199F

c.597G>C

3 papers

NM_001379270.1

p.E194K

c.580G>A

1 paper

NM_001379270.1

p.Q189delFs

c.566delT

1 paper

NM_001379270.1

p.E187*

c.559G>T

3 papers

NM_001379270.1

p.E187K

c.559G>A

1 paper

NM_001379270.1

p.F185S

c.554T>C

1 paper

NM_001379270.1

p.C184Y

c.551G>A

1 paper

NM_001379270.1

p.I180delFs

c.540delA

1 paper

NM_001379270.1

p.V179D

c.536T>A