Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.K286fs

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.K286fs
c.856_857fs
Surrounding Variants
1 paper
NM_000440.3
p.Q285K
c.853C>A
1 paper
NM_000440.3
p.K284E
c.850A>G
1 paper
NM_000440.3
p.L279F
c.835C>T
1 paper
NM_000440.3
p.V277A
c.830T>C
1 paper
NM_000440.3
p.Y275delFs
c.823_824delTA
2 papers
NM_000440.3
p.Y275fs
c.823_824fs
1 paper
NM_000440.3
p.L270L
c.810C>A
1 paper
NM_000440.3
p.F269_L270delFs
c.805_809del5
1 paper
NM_000440.3
p.A268D
c.803C>A
1 paper
NM_000440.3
p.V266insFs
c.797_798ins7
7 papers
NM_000440.3
p.A262T
c.784G>A
1 paper
NM_000440.3
p.Q258delins
c.774delinsAAGC
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