Varaico: Literature-Extracted Genetic Variants

Gene:PDE6D
Variant:p.V49del1

PDE6D

31 papers

RefSeq Summary

This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bo...

Pfam Domains

GMP_PDE_deltaaa 9–89UCSCGMP-PDE, delta subunit

Gene Aliases

HGNC Name

phosphodiesterase 6D

HGNC Alias Symbol

JBTS22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002601.4
p.V49del1
c.145_146delAAC
Surrounding Variants
2 papers
NM_002601.4
p.A47Splc
c.140-1G>A
1 paper
NM_002601.4
p.R75C
c.223C>T
1 paper
NM_002601.4
p.Q85*
c.253C>T
2 papers
NM_002601.4
p.C86fs
c.256_257fs
2 papers
NM_002601.4
p.C86delFs
c.257delC
1 paper
NM_002601.4
p.E93K
c.277G>A
1 paper
NM_002601.4
p.F96L
c.286T>C
1 paper
NM_002601.4
p.F96L
c.288T>G
1 paper
NM_002601.4
p.F96L
c.288T>A
1 paper
NM_002601.4
p.V97ins6
c.289_290ins18
1 paper
NM_002601.4
p.I98F
c.292A>T
1 paper
NM_002601.4
p.M118R
c.353T>G
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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."