Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.Q569K

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
26 papers
NM_000440.3
p.Q569K
c.1705C>A
Surrounding Variants
1 paper
NM_000440.3
p.G568E
c.1703G>A
2 papers
NM_000440.3
p.G568R
c.1702G>C
2 papers
NM_000440.3
p.G568R
c.1702G>A
1 paper
NM_000440.3
p.F565C
c.1694T>G
4 papers
NM_000440.3
p.S573P
c.1717T>C
1 paper
NM_000440.3
p.S573Y
c.1718C>A
1 paper
NM_000440.3
p.G564S
c.1690G>A
3 papers
NM_000440.3
p.H563Q
c.1689C>G
3 papers
NM_000440.3
p.H563Q
c.1689C>A
1 paper
NM_000440.3
p.H563Y
c.1687C>T
3 papers
NM_000440.3
p.L575P
c.1724T>C
7 papers
NM_000440.3
p.R562Q
c.1685G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."