Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.D320G

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.D320G
c.959A>G
Surrounding Variants
1 paper
NM_000440.3
p.Y321*
c.963C>G
1 paper
NM_000440.3
p.Y321*
c.963C>A
1 paper
NM_000440.3
p.V318D
c.953T>A
1 paper
NM_000440.3
p.K317M
c.950A>T
3 papers
NM_000440.3
p.Y316*
c.948C>G
2 papers
NM_000440.3
p.Y316*
c.948C>A
1 paper
NM_000440.3
p.K326T
c.977A>C
1 paper
NM_000440.3
p.I313fs
c.937_938fs
1 paper
NM_000440.3
p.E327Q
c.979G>C
1 paper
NM_000440.3
p.I313N
c.938T>A
2 papers
NM_000440.3
p.I313delFs
c.937delT
1 paper
NM_000440.3
p.E327D
c.981G>T
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