Varaico: Literature-Extracted Genetic Variants

Gene:PDE6G
Variant:p.N2K

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.N2K
c.6C>G
Surrounding Variants
1 paper
NM_002602.4
p.N2K
c.6C>A
1 paper
NM_002602.4
p.M1_N2insFs
c.3_4insT
1 paper
NM_002602.4
p.M1T
c.2T>C
1 paper
NM_002602.4
p.P5delFs
c.14delG
1 paper
NM_002602.4
p.R15R
c.45G>A
1 paper
NM_002602.4
p.A17T
c.49G>A
1 paper
NM_002602.4
p.G19fs
c.55_56fs
1 paper
NM_002602.4
p.G19delFs
c.56delC
2 papers
NM_002602.4
p.P23H
c.68C>A
2 papers
NM_002602.4
p.R24fs
c.70_71fs
1 paper
NM_002602.4
p.P23insFs
c.69dupC
1 paper
NM_002602.4
p.P23delFs
c.69delG
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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."