Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.R544W

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
11 papers
NM_000440.3
p.R544W
c.1630C>T
Surrounding Variants
3 papers
NM_000440.3
p.R544Q
c.1631G>A
1 paper
NM_000440.3
p.F545C
c.1634T>G
1 paper
NM_000440.3
p.L542L
c.1624C>T
2 papers
NM_000440.3
p.A541V
c.1622C>T
1 paper
NM_000440.3
p.A541D
c.1622C>A
1 paper
NM_000440.3
p.E540_A541Splc
c.1621-1G>A
1 paper
NM_000440.3
p.E540_A541Splc
c.1621-6T>G
2 papers
NM_000440.3
p.L549P
c.1646T>C
3 papers
NM_000440.3
p.K551E
c.1651A>G
2 papers
NM_000440.3
p.G552D
c.1655G>A
1 paper
NM_000440.3
p.R554C
c.1660C>T
1 paper
NM_000440.3
p.R554H
c.1661G>A
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