Varaico: Literature-Extracted Genetic Variants

Gene:PDE6G
Variant:p.K41E

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.K41E
c.121A>G
Surrounding Variants
2 papers
NM_002602.4
p.Q37*
c.109C>T
1 paper
NM_002602.4
p.G46R
c.136G>C
1 paper
NM_002602.4
p.T35A
c.103A>G
1 paper
NM_002602.4
p.V47G
c.140T>G
2 papers
NM_002602.4
p.Q34*
c.100C>T
2 papers
NM_002602.4
p.R33*
c.97C>T
1 paper
NM_002602.4
p.Q32delFs
c.95delT
1 paper
NM_002602.4
p.G49Splc
c.146+1G>T
1 paper
NM_002602.4
p.Q32fs
c.94_95fs
1 paper
NM_002602.4
p.P28L
c.83C>T
1 paper
NM_002602.4
p.K25R
c.74A>G
2 papers
NM_002602.4
p.R24fs
c.70_71fs
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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."