Varaico: Literature-Extracted Genetic Variants

Gene:PDE6H

PDE6H

53 papers

RefSeq Summary

This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma...

Pfam Domains

PDE6_gammaaa 2–83UCSCRetinal cGMP phosphodiesterase, gamma subunit

Gene Aliases

HGNC Name

phosphodiesterase 6H

HGNC Previous Name

phosphodiesterase 6H, cGMP-specific, cone, gamma

Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
19 papers
NM_006205.3
p.S12*
c.35C>G
17 papers
NM_006205.3
p.S12*
c.35C>A
2 papers
NM_006205.3
p.Q79H
c.237G>C
2 papers
NM_006205.3
p.Q79H
c.237G>T
1 paper
NM_006205.3
p.N4S
c.11A>G
1 paper
NM_006205.3
p.A11G
c.32C>G
1 paper
NM_006205.3
p.R20P
c.59G>C
1 paper
NM_006205.3
p.R29W
c.85A>T
1 paper
NM_006205.3
p.G45Splc
c.134+2T>C
1 paper
NM_006205.3
p.G45Splc
c.135-2A>C
1 paper
NM_006205.3
p.G45Splc
c.135-2A>G
1 paper
NM_006205.3
p.I63delFs
c.189delT
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."