Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.E827K

PDE6C

232 papers

RefSeq Summary

This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene a...

Pfam Domains

GAFaa 75–224UCSCGAF domain
GAFaa 256–433UCSCGAF domain
PDEase_Iaa 561–805UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 6C

HGNC Alias Symbols

PDEA2; ACHM5; COD4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006204.4
p.E827K
c.2479G>A
Surrounding Variants
1 paper
NM_006204.4
p.I826T
c.2477T>C
1 paper
NM_006204.4
p.K822N
c.2466G>C
1 paper
NM_006204.4
p.K822T
c.2465A>C
1 paper
NM_006204.4
p.A821G
c.2462C>G
2 papers
NM_006204.4
p.E834G
c.2501A>G
5 papers
NM_006204.4
p.Y819*
c.2457T>A
4 papers
NM_006204.4
p.Y819*
c.2457T>G
1 paper
NM_006204.4
p.G835*
c.2503G>T
2 papers
NM_006204.4
p.G836delFs
c.2507delG
3 papers
NM_006204.4
p.G836fs
c.2506_2507fs
2 papers
NM_006204.4
p.A840Splc
c.2518+5G>C
1 paper
NM_006204.4
p.V810delFs
c.2428delG
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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."