Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.W243*

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.W243*
c.729G>A
Surrounding Variants
2 papers
NM_000440.3
p.W243*
c.728G>A
1 paper
NM_000440.3
p.G245insFs
c.733dupG
1 paper
NM_000440.3
p.L241V
c.721C>G
1 paper
NM_000440.3
p.T253M
c.758C>T
1 paper
NM_000440.3
p.D254Y
c.760G>T
1 paper
NM_000440.3
p.D254G
c.761A>G
17 papers
NM_000440.3
p.R257*
c.769C>T
1 paper
NM_000440.3
p.Q239_I240Splc
c.718-29C>T
1 paper
NM_000440.3
p.R257Q
c.770G>A
1 paper
NM_000440.3
p.Q258delins
c.774delinsAAGC
7 papers
NM_000440.3
p.A262T
c.784G>A
1 paper
NM_000440.3
p.V266insFs
c.797_798ins7
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