Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.I332delFs

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.I332delFs
c.995delA
Surrounding Variants
16 papers
NM_000440.3
p.P333Splc
c.998+1G>A
2 papers
NM_000440.3
p.P333Splc
c.998+2T>G
1 paper
NM_000440.3
p.P333Splc
c.998+11C>T
1 paper
NM_000440.3
p.D328V
c.983A>T
1 paper
NM_000440.3
p.E327D
c.981G>T
1 paper
NM_000440.3
p.E327D
c.981G>C
1 paper
NM_000440.3
p.E327Q
c.979G>C
1 paper
NM_000440.3
p.K326T
c.977A>C
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.D320G
c.959A>G
1 paper
NM_000440.3
p.V318D
c.953T>A
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