Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.P128_E131delFs

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.P128_E131delFs
c.383_392del10
Surrounding Variants
1 paper
NM_000440.3
p.V133I
c.397G>A
1 paper
NM_000440.3
p.Q130K
c.388C>A
1 paper
NM_000440.3
p.D129N
c.385G>A
1 paper
NM_000440.3
p.P135L
c.404C>T
1 paper
NM_000440.3
p.M127V
c.379A>G
1 paper
NM_000440.3
p.D137N
c.409G>A
1 paper
NM_000440.3
p.M138T
c.413T>C
1 paper
NM_000440.3
p.E122del1
c.364_365delCTC
8 papers
NM_000440.3
p.D123Y
c.367G>T
1 paper
NM_000440.3
p.L121_E122del1
c.363_365delTCG
1 paper
NM_000440.3
p.V141M
c.421G>A
1 paper
NM_000440.3
p.G142D
c.425G>A
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