Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.Y700fs

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.Y700fs
c.2098_2099fs
Surrounding Variants
2 papers
NM_000440.3
p.Y700insFs
c.2098dupT
1 paper
NM_000440.3
p.W697_Q699del3
c.2089_2096del9
1 paper
NM_000440.3
p.Y700*
c.2100C>G
2 papers
NM_000440.3
p.Y700fs
c.2098_2099fs
1 paper
NM_000440.3
p.Y700*
c.2100C>A
1 paper
NM_000440.3
p.Q699R
c.2096A>G
1 paper
NM_000440.3
p.T698insFs
c.2093_2094ins5
1 paper
NM_000440.3
p.E696K
c.2086G>A
4 papers
NM_000440.3
p.R707W
c.2119C>T
1 paper
NM_000440.3
p.Y691delFs
c.2072_2073delAT
1 paper
NM_000440.3
p.Y691*
c.2073T>G
1 paper
NM_000440.3
p.Y691*
c.2073T>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."