Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.N649I

PDE6A

325 papers

RefSeq Summary

This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed ...

Pfam Domains

GAFaa 73–222UCSCGAF domain
GAFaa 254–431UCSCGAF domain
PDEase_Iaa 558–802UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 6A

HGNC Previous Symbol

PDEA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000440.3
p.N649I
c.1946A>T
Surrounding Variants
1 paper
NM_000440.3
p.N649S
c.1946A>G
1 paper
NM_000440.3
p.N649T
c.1946A>C
1 paper
NM_000440.3
p.N649Y
c.1945A>T
1 paper
NM_000440.3
p.N649D
c.1945A>G
1 paper
NM_000440.3
p.Q648E
c.1942C>G
1 paper
NM_000440.3
p.N651S
c.1952A>G
1 paper
NM_000440.3
p.F647L
c.1939T>C
5 papers
NM_000440.3
p.R652C
c.1954C>T
1 paper
NM_000440.3
p.R652_R653insFs
c.1956_1957ins20
2 papers
NM_000440.3
p.I646V
c.1936A>G
28 papers
NM_000440.3
p.R653*
c.1957C>T
1 paper
NM_000440.3
p.N645S
c.1934A>G
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