Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.M55I

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.M55I
c.165G>T
Surrounding Variants
1 paper
NM_000440.3
p.M55I
c.165G>C
1 paper
NM_000440.3
p.M55I
c.165G>A
1 paper
NM_000440.3
p.M55R
c.164T>G
1 paper
NM_000440.3
p.M55T
c.164T>C
1 paper
NM_000440.3
p.M55K
c.164T>A
1 paper
NM_000440.3
p.E56*
c.166G>T
1 paper
NM_000440.3
p.E56Q
c.166G>C
1 paper
NM_000440.3
p.E56K
c.166G>A
1 paper
NM_000440.3
p.E56V
c.167A>T
1 paper
NM_000440.3
p.M55L
c.163A>T
1 paper
NM_000440.3
p.E56G
c.167A>G
1 paper
NM_000440.3
p.M55V
c.163A>G
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