Varaico: Literature-Extracted Genetic Variants

Gene:PDE6G

PDE6G

44 papers

RefSeq Summary

This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in ro...

Pfam Domains

PDE6_gammaaa 5–87UCSCRetinal cGMP phosphodiesterase, gamma subunit

Gene Aliases

HGNC Name

phosphodiesterase 6G

HGNC Previous Symbol

PDEG

Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
6 papers
NM_002602.4
p.D63Splc
c.187+1G>T
2 papers
NM_002602.4
p.P23H
c.68C>A
2 papers
NM_002602.4
p.R24fs
c.70_71fs
2 papers
NM_002602.4
p.R33*
c.97C>T
2 papers
NM_002602.4
p.Q34*
c.100C>T
2 papers
NM_002602.4
p.Q37*
c.109C>T
2 papers
NM_002602.4
p.D63Y
c.187G>T
2 papers
NM_002602.4
p.D63Y
c.187G>T
1 paper
NM_002602.4
p.M1T
c.2T>C
1 paper
NM_002602.4
p.M1_N2insFs
c.3_4insT
1 paper
NM_002602.4
p.N2K
c.6C>G
1 paper
NM_002602.4
p.N2K
c.6C>A
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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."