Varaico: Literature-Extracted Genetic Variants

Gene:PDE6G
Variant:p.L78P

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
Selected Variant
1 paper
NM_002602.4
p.L78P
c.233T>C
Surrounding Variants
1 paper
NM_002602.4
p.E80G
c.239A>G
1 paper
NM_002602.4
p.L76L
c.226C>T
1 paper
NM_002602.4
p.H75R
c.224A>G
1 paper
NM_002602.4
p.*88W
c.263A>G
1 paper
NM_002602.4
p.*88Y
c.264G>T
2 papers
NM_002602.4
p.D63Y
c.187G>T
6 papers
NM_002602.4
p.D63Splc
c.187+1G>T
2 papers
NM_002602.4
p.D63Y
c.187G>T
1 paper
NM_002602.4
p.E58Q
c.172G>C
1 paper
NM_002602.4
p.D53_I54ins1
c.159_160insTAA
1 paper
NM_002602.4
p.G49Splc
c.147-2A>G
1 paper
NM_002602.4
p.G49Splc
c.146+1G>T
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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."